M10L (p.Met10Leu) variant of BAG3 (O95817)
M10L (p.Met10Leu) in BAG3 (O95817) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
M10L (p.Met10Leu) variant details
- p.Met10Leu
- gnomAD 10-119651703-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.188
- REVEL 0.07
- CADD 18.90
- PolyPhen-2 0.00
- SIFT 0.19
- Most common in the African/African-American population (allele frequency 2.8e-05)
- Structural context available
- BAG3 WW domain domainome 1.0: score -0.478
- Literature evidence available