Q4K (p.Gln4Lys) variant of ARID1A (O14497)
Q4K (p.Gln4Lys) in ARID1A (O14497) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
Q4K (p.Gln4Lys) variant details
- p.Gln4Lys
- Ensembl rs2124739705
- Missense
- Variant Prioritization Score for Impact Estimate 0.295
- REVEL 0.06
- MetaLR 0.01
- MetaSVM -0.82
- CADD 23.00
- PolyPhen-2 0.07
- SIFT 0.00
- Most common in the Ashkenazi Jewish population (allele frequency 6.5e-05)
- Structural context available