V2L (p.Val2Leu) variant of SLC6A19 (Q695T7)
V2L (p.Val2Leu) in SLC6A19 (Q695T7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
V2L (p.Val2Leu) variant details
- p.Val2Leu
- rs367576369
- ClinGen CA3182527
- ClinVar RCV002103052
- 1000Genomes rs367576369
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.21
- REVEL 0.06
- ESM-1b 0.00
- AlphaMissense 0.14
- CADD 19.40
- PolyPhen-2 0.00
- SIFT 0.12
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:MANDENKA population (allele frequency 0.025)
- Structural context available