S7W (p.Ser7Trp) variant of BAG3 (O95817)
S7W (p.Ser7Trp) in BAG3 (O95817) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
S7W (p.Ser7Trp) variant details
- p.Ser7Trp
- gnomAD 10-119651695-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.544
- REVEL 0.39
- CADD 26.90
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the South Asian population (allele frequency 0.00044)
- Structural context available
- BAG3 WW domain domainome 1.0: score 0.212
- Literature evidence available