G7V (p.Gly7Val) variant of CSRP3 (P50461)
G7V (p.Gly7Val) in CSRP3 (P50461) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
G7V (p.Gly7Val) variant details
- p.Gly7Val
- ExAC rs768595166
- gnomAD rs768595166
- Missense
- Variant Prioritization Score for Impact Estimate 0.511
- REVEL 0.34
- CADD 24.00
- PolyPhen-2 0.45
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available