A51V (p.Ala51Val) variant of CSRP3 (P50461)
A51V (p.Ala51Val) in CSRP3 (P50461) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
A51V (p.Ala51Val) variant details
- p.Ala51Val
- ExAC rs397516853
- TOPMed rs397516853
- gnomAD rs397516853
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.539
- REVEL 0.43
- CADD 18.20
- PolyPhen-2 0.01
- SIFT 0.46
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available