A30V (p.Ala30Val) variant of SLC22A1 (O15245)
A30V (p.Ala30Val) in SLC22A1 (O15245) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
A30V (p.Ala30Val) variant details
- p.Ala30Val
- gnomAD 6-160122024-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.102
- REVEL 0.12
- CADD 0.05
- PolyPhen-2 0.00
- SIFT 0.90
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available