P62S (p.Pro62Ser) variant of TULP1 (Tubby-related protein 1)
P62S (p.Pro62Ser) 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 Inborn genetic diseases; not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
P62S (p.Pro62Ser) variant details
- p.Pro62Ser
- rs781650198
- ClinGen CA243286
- ClinVar RCV000177171
- ClinVar RCV001156390
- Uncertain significance
- Inborn genetic diseases; not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.191
- REVEL 0.12
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 7.00
- PolyPhen-2 0.00
- SIFT 0.45
- ClinVar: Uncertain significance (Inborn genetic diseases; not specified; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:LWK population (allele frequency 0.0058)
- 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)