D124N (p.Asp124Asn) variant of TULP1 (Tubby-related protein 1)
D124N (p.Asp124Asn) 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 Retinal dystrophy; Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
D124N (p.Asp124Asn) variant details
- p.Asp124Asn
- rs565455738
- ClinGen CA3772941
- ClinVar RCV002638043
- ClinVar RCV002640276
- Uncertain significance
- Retinal dystrophy; Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.322
- REVEL 0.13
- ESM-1b 0.89
- AlphaMissense 0.07
- CADD 16.20
- PolyPhen-2 0.00
- SIFT 0.06
- ClinVar: Uncertain significance (Retinal dystrophy; Inborn genetic diseases; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:PJL population (allele frequency 0.0052)
- 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)