A19S (p.Ala19Ser) variant of NTHL1 (Endonuclease III-like protein 1)
A19S (p.Ala19Ser) in NTHL1 (Endonuclease III-like protein 1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data and structural context.
A19S (p.Ala19Ser) variant details
- p.Ala19Ser
- Ensembl rs2150958171
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.0781
- CADD 2.18
- PolyPhen-2 0.00
- SIFT 0.45
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 2.4e-05)
- Structural context available