L2V (p.Leu2Val) variant of HOGA1 (Q86XE5)
L2V (p.Leu2Val) in HOGA1 (Q86XE5) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
L2V (p.Leu2Val) variant details
- p.Leu2Val
- rs375261073
- ESP rs375261073
- ExAC rs375261073
- TOPMed rs375261073
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.32
- REVEL 0.20
- ESM-1b 0.29
- AlphaMissense 0.08
- MetaLR 0.71
- MetaSVM 0.57
- CADD 21.60
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 9.6e-05)
- Structural context available