C58R (p.Cys58Arg) variant of CSRP3 (P50461)
C58R (p.Cys58Arg) in CSRP3 (P50461) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
C58R (p.Cys58Arg) variant details
- p.Cys58Arg
- gnomAD 11-19188245-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.853
- REVEL 0.96
- MetaLR 0.99
- MetaSVM 0.98
- CADD 25.20
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available