C13S (p.Cys13Ser) variant of CSRP3 (P50461)
C13S (p.Cys13Ser) 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 0.84 / 1. The record also includes population frequency data and structural context.
C13S (p.Cys13Ser) variant details
- p.Cys13Ser
- TOPMed rs1257113692
- gnomAD rs1257113692
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.836
- REVEL 0.98
- CADD 26.30
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available