P62H (p.Pro62His) variant of FAS (P25445)
P62H (p.Pro62His) in FAS (P25445) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
P62H (p.Pro62His) variant details
- p.Pro62His
- ExAC rs757780022
- TOPMed rs757780022
- gnomAD rs757780022
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.198
- CADD 16.90
- PolyPhen-2 0.93
- SIFT 0.03
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available