V12V (p.Val12Val) variant of BAG3 (O95817)
V12V (p.Val12Val) in BAG3 (O95817) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
V12V (p.Val12Val) variant details
- p.Val12Val
- rs1232169723
- gnomAD 10-119651711-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.629
- CADD 13.70
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- BAG3 WW domain domainome 1.0: score -0.539
- Literature evidence available