A14V (p.Ala14Val) variant of SLC6A4 (P31645)
A14V (p.Ala14Val) in SLC6A4 (P31645) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
A14V (p.Ala14Val) variant details
- p.Ala14Val
- rs763069645
- ClinGen CA8480516
- cosmic curated COSV55570
- ClinVar RCV000400361
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.141
- REVEL 0.09
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.20
- MetaSVM -0.97
- CADD 2.68
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available