Y71D (p.Tyr71Asp) variant of KRAS (GTPase KRas)
Y71D (p.Tyr71Asp) in KRAS (GTPase KRas) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Cardio-facio-cutaneous syndrome; not provided. 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.
Y71D (p.Tyr71Asp) variant details
- p.Tyr71Asp
- rs387907205
- ClinGen CA10576919
- ClinVar RCV000221667
- ClinVar RCV000596230
- Likely pathogenic
- Cardio-facio-cutaneous syndrome; not provided
- 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: Likely pathogenic (Cardio-facio-cutaneous syndrome; not provided)
- 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: Cardiofaciocutaneous Syndrome. (PMID 20301365)