P20A (p.Pro20Ala) variant of SDHC (Q99643)
P20A (p.Pro20Ala) in SDHC (Q99643) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes published literature and structural context.
P20A (p.Pro20Ala) variant details
- p.Pro20Ala
- rs757465324
- ClinGen CA343359540
- ClinVar RCV003305382
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.436
- AlphaMissense 0.08
- MetaLR 0.58
- MetaSVM -0.03
- PolyPhen-2 0.01
- SIFT 0.20
- EVE 0.18
- ClinVar: Uncertain significance (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)