S43R (p.Ser43Arg) variant of NTHL1 (Endonuclease III-like protein 1)
S43R (p.Ser43Arg) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data and structural context.
S43R (p.Ser43Arg) variant details
- p.Ser43Arg
- rs1004057524
- ClinGen CA394298056
- ClinVar RCV001324518
- TOPMed rs1004057524
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.107
- CADD 7.17
- PolyPhen-2 0.00
- SIFT 0.13
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available