P17Q (p.Pro17Gln) variant of ARID1A (O14497)
P17Q (p.Pro17Gln) in ARID1A (O14497) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
P17Q (p.Pro17Gln) variant details
- p.Pro17Gln
- gnomAD 1-26696453-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.236
- REVEL 0.09
- MetaLR 0.01
- MetaSVM -0.79
- CADD 25.20
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available