R41S (p.Arg41Ser) variant of NTHL1 (Endonuclease III-like protein 1)
R41S (p.Arg41Ser) 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 0.57 / 1. The record also includes population frequency data and structural context.
R41S (p.Arg41Ser) variant details
- p.Arg41Ser
- rs2084387412
- ClinGen CA394298086
- ClinVar RCV001218029
- Ensembl rs2084387412
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.569
- CADD 10.60
- PolyPhen-2 0.00
- SIFT 0.31
- ClinVar: Uncertain significance (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available