A8T (p.Ala8Thr) variant of ARID1B (Q8NFD5)
A8T (p.Ala8Thr) in ARID1B (Q8NFD5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
A8T (p.Ala8Thr) variant details
- p.Ala8Thr
- TOPMed rs1397938107
- gnomAD rs1397938107
- Missense
- Variant Prioritization Score for Impact Estimate 0.365
- CADD 18.10
- PolyPhen-2 0.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available