S14R (p.Ser14Arg) variant of NTHL1 (Endonuclease III-like protein 1)
S14R (p.Ser14Arg) in NTHL1 (Endonuclease III-like protein 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
S14R (p.Ser14Arg) variant details
- p.Ser14Arg
- rs898348644
- ClinGen CA394298534
- ClinVar RCV001054556
- TOPMed rs898348644
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.418
- CADD 19.80
- PolyPhen-2 0.00
- SIFT 0.11
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available