A27V (p.Ala27Val) variant of ARID1B (Q8NFD5)
A27V (p.Ala27Val) in ARID1B (Q8NFD5) 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 and structural context.
A27V (p.Ala27Val) variant details
- p.Ala27Val
- 1000Genomes rs1327350233
- TOPMed rs1327350233
- gnomAD rs1327350233
- Missense
- Variant Prioritization Score for Impact Estimate 0.244
- CADD 15.70
- PolyPhen-2 0.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available