A6T (p.Ala6Thr) variant of ARID1A (O14497)
A6T (p.Ala6Thr) in ARID1A (O14497) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
A6T (p.Ala6Thr) variant details
- p.Ala6Thr
- gnomAD 1-26696419-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.216
- REVEL 0.07
- MetaLR 0.01
- MetaSVM -0.86
- CADD 23.40
- PolyPhen-2 0.15
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.1e-06)
- Structural context available
- Literature evidence available