A9S (p.Ala9Ser) variant of SLC22A5 (O76082)
A9S (p.Ala9Ser) in SLC22A5 (O76082) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
A9S (p.Ala9Ser) variant details
- p.Ala9Ser
- gnomAD 5-132369997-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.326
- REVEL 0.23
- CADD 20.80
- PolyPhen-2 0.04
- SIFT 0.30
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available