A68V (p.Ala68Val) variant of SLC22A2 (O15244)
A68V (p.Ala68Val) in SLC22A2 (O15244) 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 0.19 / 1. The record also includes population frequency data and structural context.
A68V (p.Ala68Val) variant details
- p.Ala68Val
- rs751773139
- NCI-TCGA Cosmic COSV6526
- ExAC rs751773139
- gnomAD rs751773139
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.186
- REVEL 0.17
- CADD 18.20
- PolyPhen-2 0.60
- SIFT 0.02
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available