C34R (p.Cys34Arg) variant of CSRP3 (P50461)
C34R (p.Cys34Arg) in CSRP3 (P50461) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data and structural context.
C34R (p.Cys34Arg) variant details
- p.Cys34Arg
- TOPMed rs1468073066
- Missense
- Variant Prioritization Score for Impact Estimate 0.832
- REVEL 0.96
- CADD 29.40
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available