A8P (p.Ala8Pro) variant of ARID1A (O14497)
A8P (p.Ala8Pro) in ARID1A (O14497) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
A8P (p.Ala8Pro) variant details
- p.Ala8Pro
- gnomAD rs1296885198
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.345
- REVEL 0.14
- MetaLR 0.01
- MetaSVM -0.85
- CADD 23.70
- PolyPhen-2 0.65
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.1e-06)
- Structural context available