V5I (p.Val5Ile) variant of ARID1A (O14497)
V5I (p.Val5Ile) in ARID1A (O14497) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
V5I (p.Val5Ile) variant details
- p.Val5Ile
- rs960279959
- ClinGen CA19640271
- ClinVar RCV003858460
- TOPMed rs960279959
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.285
- REVEL 0.04
- MetaLR 0.01
- MetaSVM -0.79
- CADD 23.00
- PolyPhen-2 0.05
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.5e-05)
- Structural context available