A3T (p.Ala3Thr) variant of ARID1A (O14497)
A3T (p.Ala3Thr) 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.
A3T (p.Ala3Thr) variant details
- p.Ala3Thr
- gnomAD 1-26696410-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.315
- REVEL 0.05
- CADD 23.70
- PolyPhen-2 0.01
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 8.4e-05)
- Structural context available
- Literature evidence available