S12C (p.Ser12Cys) variant of NTHL1 (Endonuclease III-like protein 1)
S12C (p.Ser12Cys) in NTHL1 (Endonuclease III-like protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
S12C (p.Ser12Cys) variant details
- p.Ser12Cys
- Ensembl rs2150958482
- Missense
- Variant Prioritization Score for Impact Estimate 0.314
- CADD 21.30
- PolyPhen-2 0.13
- SIFT 0.00
- Population evidence available
- Structural context available