R41S (p.Arg41Ser) variant of CSRP3 (P50461)
R41S (p.Arg41Ser) in CSRP3 (P50461) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
R41S (p.Arg41Ser) variant details
- p.Arg41Ser
- gnomAD 11-19188294-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.557
- REVEL 0.69
- MetaLR 0.65
- MetaSVM 0.10
- CADD 23.80
- PolyPhen-2 0.72
- SIFT 0.08
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available