K35R (p.Lys35Arg) variant of SDHC (Q99643)
K35R (p.Lys35Arg) in SDHC (Q99643) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes published literature and structural context.
K35R (p.Lys35Arg) variant details
- p.Lys35Arg
- rs1342764291
- ClinGen CA343360950
- ClinVar RCV001017124
- ClinVar RCV005423786
- Uncertain significance
- not provided; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.662
- AlphaMissense 0.28
- MetaLR 0.91
- MetaSVM 1.00
- PolyPhen-2 0.07
- SIFT 0.02
- EVE 0.36
- ClinVar: Uncertain significance (not provided; Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)