A39V (p.Ala39Val) variant of CSRP3 (P50461)
A39V (p.Ala39Val) 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 0.49 / 1. The record also includes population frequency data and structural context.
A39V (p.Ala39Val) variant details
- p.Ala39Val
- ExAC rs748417030
- TOPMed rs748417030
- gnomAD rs748417030
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.49
- REVEL 0.35
- CADD 18.20
- PolyPhen-2 0.01
- SIFT 1.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available