A13S (p.Ala13Ser) variant of BAG3 (O95817)
A13S (p.Ala13Ser) in BAG3 (O95817) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A13S (p.Ala13Ser) variant details
- p.Ala13Ser
- gnomAD 10-119651712-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.345
- REVEL 0.15
- CADD 22.90
- PolyPhen-2 0.35
- SIFT 0.12
- Most common in the South Asian population (allele frequency 0.00044)
- Structural context available
- BAG3 WW domain domainome 1.0: score -0.54
- Literature evidence available