S12I (p.Ser12Ile) variant of NTHL1 (Endonuclease III-like protein 1)
S12I (p.Ser12Ile) 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 0.51 / 1. The record also includes population frequency data and structural context.
S12I (p.Ser12Ile) variant details
- p.Ser12Ile
- rs2150958467
- ClinGen CA394298556
- ClinVar RCV002811976
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.507
- CADD 18.20
- PolyPhen-2 0.04
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available