K99R (p.Lys99Arg) variant of TULP1 (Tubby-related protein 1)
K99R (p.Lys99Arg) in TULP1 (Tubby-related protein 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; TULP1-related disorder; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
K99R (p.Lys99Arg) variant details
- p.Lys99Arg
- rs145518705
- ClinGen CA3772971
- ClinVar RCV001047048
- ClinVar RCV001152497
- Uncertain significance
- not provided; TULP1-related disorder; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.342
- REVEL 0.31
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 28.10
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; TULP1-related disorder; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 0.00015)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)