H42Y (p.His42Tyr) variant of HIF1A (Hypoxia-inducible factor 1-alpha)
H42Y (p.His42Tyr) in HIF1A (Hypoxia-inducible factor 1-alpha) 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 0.37 / 1. The record also includes structural context.
H42Y (p.His42Tyr) variant details
- p.His42Tyr
- rs776377120
- NCI-TCGA Cosmic COSV6018
- cosmic curated COSV60189
- ExAC rs776377120
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.372
- AlphaMissense 0.30
- MetaLR 0.19
- MetaSVM -0.82
- PolyPhen-2 0.10
- SIFT 0.02
- MutPred 0.35
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available