A19V (p.Ala19Val) variant of SLC6A19 (Q695T7)
A19V (p.Ala19Val) in SLC6A19 (Q695T7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data and structural context.
A19V (p.Ala19Val) variant details
- p.Ala19Val
- rs2477905668
- ClinGen CA359060015
- ClinVar RCV003457426
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.0828
- REVEL 0.07
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 0.03
- PolyPhen-2 0.03
- SIFT 0.28
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available