S22L (p.Ser22Leu) variant of ARID1A (O14497)
S22L (p.Ser22Leu) in ARID1A (O14497) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
S22L (p.Ser22Leu) variant details
- p.Ser22Leu
- cosmic curated COSV10520
- TOPMed rs1377110828
- gnomAD rs1377110828
- Missense
- Variant Prioritization Score for Impact Estimate 0.348
- REVEL 0.12
- MetaLR 0.03
- MetaSVM -1.09
- CADD 27.50
- PolyPhen-2 0.95
- SIFT 0.00
- Most common in the Middle Eastern population (allele frequency 0.00033)
- Structural context available