V37A (p.Val37Ala) variant of SLC22A1 (O15245)
V37A (p.Val37Ala) in SLC22A1 (O15245) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
V37A (p.Val37Ala) variant details
- p.Val37Ala
- gnomAD 6-160122045-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.481
- REVEL 0.53
- CADD 18.20
- PolyPhen-2 0.10
- SIFT 0.13
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available