A13P (p.Ala13Pro) variant of ARID1B (Q8NFD5)
A13P (p.Ala13Pro) in ARID1B (Q8NFD5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
A13P (p.Ala13Pro) variant details
- p.Ala13Pro
- gnomAD rs1211283818
- Missense
- Variant Prioritization Score for Impact Estimate 0.7
- CADD 15.80
- PolyPhen-2 0.00
- SIFT 0.14
- Most common in the Ashkenazi Jewish population (allele frequency 5.1e-05)
- Structural context available