A12V (p.Ala12Val) variant of CSRP3 (P50461)
A12V (p.Ala12Val) in CSRP3 (P50461) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
A12V (p.Ala12Val) variant details
- p.Ala12Val
- gnomAD 11-19192414-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.533
- REVEL 0.42
- MetaLR 0.62
- MetaSVM 0.00
- CADD 22.00
- PolyPhen-2 0.19
- SIFT 0.35
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available