P131S (p.Pro131Ser) variant of ETFA (P13804)
P131S (p.Pro131Ser) in ETFA (P13804) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
P131S (p.Pro131Ser) variant details
- p.Pro131Ser
- ExAC rs775257101
- gnomAD rs775257101
- Missense
- Variant Prioritization Score for Impact Estimate 0.724
- REVEL 0.80
- ESM-1b 1.00
- AlphaMissense 0.30
- CADD 23.40
- PolyPhen-2 0.57
- SIFT 0.29
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available