K10N (p.Lys10Asn) variant of HIF1A (Hypoxia-inducible factor 1-alpha)
K10N (p.Lys10Asn) 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 0.32 / 1. The record also includes population frequency data and structural context.
K10N (p.Lys10Asn) variant details
- p.Lys10Asn
- cosmic curated COSV10811
- NCI-TCGA Cosmic COSV6018
- cosmic curated COSV60188
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.316
- REVEL 0.18
- CADD 20.90
- PolyPhen-2 0.62
- SIFT 0.03
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available