P20Q (p.Pro20Gln) variant of ARID1A (O14497)
P20Q (p.Pro20Gln) in ARID1A (O14497) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
P20Q (p.Pro20Gln) variant details
- p.Pro20Gln
- gnomAD rs2080253986
- Missense
- Variant Prioritization Score for Impact Estimate 0.209
- REVEL 0.03
- MetaLR 0.01
- MetaSVM -0.95
- CADD 23.40
- PolyPhen-2 0.01
- SIFT 0.00
- Most common in the Ashkenazi Jewish population (allele frequency 6.4e-05)
- Structural context available