L71V (p.Leu71Val) variant of GALT (P07902)
L71V (p.Leu71Val) in GALT (P07902) 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 0.51 / 1. The record also includes population frequency data and structural context.
L71V (p.Leu71Val) variant details
- p.Leu71Val
- 1000Genomes rs143994870
- ESP rs143994870
- ExAC rs143994870
- TOPMed rs143994870
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.511
- REVEL 0.54
- CADD 22.70
- PolyPhen-2 0.03
- SIFT 0.11
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available