A30G (p.Ala30Gly) variant of SLC22A1 (O15245)
A30G (p.Ala30Gly) in SLC22A1 (O15245) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
A30G (p.Ala30Gly) variant details
- p.Ala30Gly
- gnomAD 6-160122024-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.21
- REVEL 0.30
- CADD 4.71
- PolyPhen-2 0.01
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available