S2I (p.Ser2Ile) variant of BAG3 (O95817)
S2I (p.Ser2Ile) in BAG3 (O95817) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
S2I (p.Ser2Ile) variant details
- p.Ser2Ile
- gnomAD 10-119651680-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.562
- REVEL 0.42
- CADD 26.20
- PolyPhen-2 0.96
- SIFT 0.00
- Population evidence available
- Structural context available
- BAG3 WW domain domainome 1.0: score 0.199
- Literature evidence available