A8P (p.Ala8Pro) variant of ARID2 (Q68CP9)
A8P (p.Ala8Pro) in ARID2 (Q68CP9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
A8P (p.Ala8Pro) variant details
- p.Ala8Pro
- gnomAD 12-45729858-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.267
- REVEL 0.04
- MetaLR 0.03
- MetaSVM -1.06
- CADD 21.00
- PolyPhen-2 0.00
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available