Y71H (p.Tyr71His) variant of KRAS (GTPase KRas)
Y71H (p.Tyr71His) in KRAS (GTPase KRas) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Cardiofaciocutaneous syndrome 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes experimental measurements, published literature, and structural context.
Y71H (p.Tyr71His) variant details
- p.Tyr71His
- rs387907205
- ClinGen CA279983
- ClinVar RCV000024617
- UniProt VAR 069784
- Pathogenic
- Cardiofaciocutaneous syndrome 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.808
- AlphaMissense 1.00
- MetaLR 0.83
- MetaSVM 0.93
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.58
- ClinVar: Pathogenic (Cardiofaciocutaneous syndrome 2)
- EBI: Pathogenic (in CFC2)
- UniProt: Pathogenic (in CFC2)
- Structural context available
- binding fitness from KRAS-DARPin K27 bindingPCA of KRAS block2: score -0.0757
- Cited in: Two novel germline KRAS mutations: expanding the molecular and clinical phenotype. (PMID 21797849)
- Cited in: Diverging gain-of-function mechanisms of two novel KRAS mutations associated with Noonan and cardio-facio-cutaneous… (PMID 23059812)