A9D (p.Ala9Asp) variant of SLC22A5 (O76082)
A9D (p.Ala9Asp) in SLC22A5 (O76082) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
A9D (p.Ala9Asp) variant details
- p.Ala9Asp
- gnomAD 5-132369998-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.439
- REVEL 0.37
- CADD 23.40
- PolyPhen-2 0.14
- SIFT 0.03
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available
- Literature evidence available