R25S (p.Arg25Ser) variant of NTHL1 (Endonuclease III-like protein 1)
R25S (p.Arg25Ser) 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 not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
R25S (p.Arg25Ser) variant details
- p.Arg25Ser
- rs1274325491
- ClinGen CA394298368
- ClinVar RCV001978836
- TOPMed rs1274325491
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.516
- CADD 14.30
- PolyPhen-2 0.01
- SIFT 0.65
- ClinVar: Uncertain significance (not provided)
- EBI: Likely benign (in dbSNP:rs2302172)
- UniProt: Likely benign (in dbSNP:rs2302172)
- Most common in the East Asian population (allele frequency 2.6e-05)
- Structural context available