P21T (p.Pro21Thr) variant of NTHL1 (Endonuclease III-like protein 1)
P21T (p.Pro21Thr) 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 0.11 / 1. The record also includes population frequency data and structural context.
P21T (p.Pro21Thr) variant details
- p.Pro21Thr
- 1000Genomes rs2084522305
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.111
- CADD 7.77
- PolyPhen-2 0.02
- SIFT 0.10
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available