S2G (p.Ser2Gly) variant of BAG3 (O95817)
S2G (p.Ser2Gly) in BAG3 (O95817) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
S2G (p.Ser2Gly) variant details
- p.Ser2Gly
- gnomAD 10-119651679-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.424
- REVEL 0.35
- CADD 26.30
- PolyPhen-2 0.84
- SIFT 0.00
- Most common in the 1KG:IBS population (allele frequency 0.017)
- Structural context available
- BAG3 WW domain domainome 1.0: score 0.199
- Literature evidence available