A43V (p.Ala43Val) variant of CSRP3 (P50461)
A43V (p.Ala43Val) in CSRP3 (P50461) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
A43V (p.Ala43Val) variant details
- p.Ala43Val
- rs146290726
- gnomAD 11-19186330-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.138
- CADD 7.79
- SIFT 1.00
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available
- Literature evidence available