A43G (p.Ala43Gly) variant of CSRP3 (P50461)
A43G (p.Ala43Gly) in CSRP3 (P50461) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
A43G (p.Ala43Gly) variant details
- p.Ala43Gly
- rs146290726
- gnomAD 11-19186330-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.121
- CADD 7.58
- SIFT 0.47
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Literature evidence available