P7S (p.Pro7Ser) variant of ARID1A (O14497)
P7S (p.Pro7Ser) in ARID1A (O14497) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
P7S (p.Pro7Ser) variant details
- p.Pro7Ser
- ExAC rs762713857
- TOPMed rs762713857
- Missense
- Variant Prioritization Score for Impact Estimate 0.201
- REVEL 0.07
- MetaLR 0.00
- MetaSVM -0.70
- CADD 16.30
- PolyPhen-2 0.00
- SIFT 0.49
- Most common in the South Asian population (allele frequency 2.6e-05)
- Structural context available