V50L (p.Val50Leu) variant of HIF1A (Hypoxia-inducible factor 1-alpha)
V50L (p.Val50Leu) in HIF1A (Hypoxia-inducible factor 1-alpha) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Maffucci syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
V50L (p.Val50Leu) variant details
- p.Val50Leu
- rs61755705
- ClinGen CA7215638
- ClinVar RCV002468421
- ClinVar RCV005232988
- Conflicting interpretations
- Maffucci syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.398
- REVEL 0.14
- CADD 23.40
- PolyPhen-2 0.53
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Maffucci syndrome; not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the HGDP:YORUBA population (allele frequency 0.024)
- Structural context available