S12N (p.Ser12Asn) variant of ARID1A (O14497)
S12N (p.Ser12Asn) in ARID1A (O14497) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
S12N (p.Ser12Asn) variant details
- p.Ser12Asn
- TOPMed rs1342376116
- gnomAD rs1342376116
- Missense
- Variant Prioritization Score for Impact Estimate 0.175
- REVEL 0.09
- MetaLR 0.00
- MetaSVM -0.93
- CADD 15.80
- PolyPhen-2 0.00
- SIFT 0.35
- Most common in the African/African-American population (allele frequency 4.9e-05)
- Structural context available