A33V (p.Ala33Val) variant of SLC22A1 (O15245)
A33V (p.Ala33Val) in SLC22A1 (O15245) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
A33V (p.Ala33Val) variant details
- p.Ala33Val
- rs550392111
- NCI-TCGA Cosmic COSV1002
- cosmic curated COSV10026
- 1000Genomes rs550392111
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.445
- REVEL 0.48
- CADD 14.80
- PolyPhen-2 0.36
- SIFT 0.06
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the 1KG:KHV population (allele frequency 0.005)
- Structural context available