A27V (p.Ala27Val) variant of SLC22A5 (O76082)
A27V (p.Ala27Val) in SLC22A5 (O76082) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Renal carnitine transport defect. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
A27V (p.Ala27Val) variant details
- p.Ala27Val
- gnomAD rs1469815229
- Uncertain significance
- Renal carnitine transport defect
- Missense
- Variant Prioritization Score for Impact Estimate 0.514
- REVEL 0.46
- CADD 22.10
- PolyPhen-2 0.01
- SIFT 0.71
- ClinVar: Uncertain significance (Renal carnitine transport defect)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available