T2S (p.Thr2Ser) variant of NTHL1 (Endonuclease III-like protein 1)
T2S (p.Thr2Ser) 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 0.07 / 1. The record also includes population frequency data and structural context.
T2S (p.Thr2Ser) variant details
- p.Thr2Ser
- gnomAD rs1305523200
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.0687
- CADD 0.07
- PolyPhen-2 0.00
- SIFT 0.68
- ClinVar: Uncertain significance (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available