V5F (p.Val5Phe) variant of ARID1A (O14497)
V5F (p.Val5Phe) in ARID1A (O14497) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
V5F (p.Val5Phe) variant details
- p.Val5Phe
- gnomAD 1-26696416-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.309
- REVEL 0.09
- MetaLR 0.01
- MetaSVM -0.93
- CADD 23.40
- PolyPhen-2 0.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available