M42V (p.Met42Val) variant of SLC6A19 (Q695T7)
M42V (p.Met42Val) in SLC6A19 (Q695T7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Neutral 1 amino acid transport defect. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
M42V (p.Met42Val) variant details
- p.Met42Val
- ESP rs372127679
- TOPMed rs372127679
- gnomAD rs372127679
- Uncertain significance
- Neutral 1 amino acid transport defect
- Missense
- Variant Prioritization Score for Impact Estimate 0.328
- REVEL 0.28
- ESM-1b 0.12
- AlphaMissense 0.10
- CADD 16.90
- PolyPhen-2 0.20
- SIFT 0.33
- ClinVar: Uncertain significance (Neutral 1 amino acid transport defect)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available