V11A (p.Val11Ala) variant of SLC22A1 (O15245)
V11A (p.Val11Ala) in SLC22A1 (O15245) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
V11A (p.Val11Ala) variant details
- p.Val11Ala
- rs749926302
- ClinGen CA4083575
- ClinVar RCV004448700
- ExAC rs749926302
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.307
- REVEL 0.24
- CADD 14.20
- PolyPhen-2 0.00
- SIFT 0.88
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.0002)
- Structural context available