A51G (p.Ala51Gly) variant of CSRP3 (P50461)
A51G (p.Ala51Gly) 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 0.55 / 1. The record also includes population frequency data and structural context.
A51G (p.Ala51Gly) variant details
- p.Ala51Gly
- ExAC rs397516853
- TOPMed rs397516853
- gnomAD rs397516853
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.551
- REVEL 0.44
- CADD 19.80
- PolyPhen-2 0.22
- SIFT 0.35
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available