A6P (p.Ala6Pro) variant of ARID1A (O14497)
A6P (p.Ala6Pro) 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.
A6P (p.Ala6Pro) variant details
- p.Ala6Pro
- gnomAD 1-26696419-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.24
- REVEL 0.10
- MetaLR 0.02
- MetaSVM -0.98
- CADD 24.90
- PolyPhen-2 0.50
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available