R34K (p.Arg34Lys) variant of NTHL1 (Endonuclease III-like protein 1)
R34K (p.Arg34Lys) in NTHL1 (Endonuclease III-like protein 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
R34K (p.Arg34Lys) variant details
- p.Arg34Lys
- rs1388213392
- ClinGen CA394298281
- ClinVar RCV001010595
- gnomAD rs1388213392
- Likely benign
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.239
- CADD 8.71
- PolyPhen-2 0.01
- SIFT 0.93
- ClinVar: Likely benign (Hereditary cancer-predisposing syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- 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)