A30D (p.Ala30Asp) variant of ABCG5 (Q9H222)
A30D (p.Ala30Asp) in ABCG5 (Q9H222) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
A30D (p.Ala30Asp) variant details
- p.Ala30Asp
- cosmic curated COSV99575
- Missense
- Variant Prioritization Score for Impact Estimate 0.265
- CADD 5.50
- PolyPhen-2 0.04
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available