T2A (p.Thr2Ala) variant of NTHL1 (Endonuclease III-like protein 1)
T2A (p.Thr2Ala) 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 0.12 / 1. The record also includes population frequency data and structural context.
T2A (p.Thr2Ala) variant details
- p.Thr2Ala
- TOPMed rs1346158495
- gnomAD rs1346158495
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.119
- CADD 7.11
- PolyPhen-2 0.00
- SIFT 0.53
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.3e-05)
- Structural context available