K22Q (p.Lys22Gln) variant of RAD50 (DNA repair protein RAD50)
K22Q (p.Lys22Gln) in RAD50 (DNA repair protein RAD50) 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 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
K22Q (p.Lys22Gln) variant details
- p.Lys22Gln
- rs1325544381
- ClinGen CA360951245
- ClinVar RCV003031688
- gnomAD rs1325544381
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.53
- AlphaMissense 0.34
- MetaLR 0.03
- MetaSVM -1.00
- CADD 29.50
- PolyPhen-2 0.98
- SIFT 0.04
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- 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)