P17S (p.Pro17Ser) variant of ARID1A (O14497)
P17S (p.Pro17Ser) in ARID1A (O14497) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
P17S (p.Pro17Ser) variant details
- p.Pro17Ser
- Ensembl rs2124739909
- Missense
- Variant Prioritization Score for Impact Estimate 0.324
- REVEL 0.10
- MetaLR 0.01
- MetaSVM -0.76
- CADD 25.10
- PolyPhen-2 0.97
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 4.2e-05)
- Structural context available