L76V (p.Leu76Val) variant of H6PD (O95479)
L76V (p.Leu76Val) in H6PD (O95479) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
L76V (p.Leu76Val) variant details
- p.Leu76Val
- ExAC rs751860747
- gnomAD rs751860747
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.223
- REVEL 0.16
- MetaLR 0.81
- MetaSVM 0.24
- CADD 9.08
- PolyPhen-2 0.01
- SIFT 0.60
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 7.2e-06)
- Structural context available