P30S (p.Pro30Ser) variant of NTHL1 (Endonuclease III-like protein 1)
P30S (p.Pro30Ser) 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 0.55 / 1. The record also includes population frequency data and structural context.
P30S (p.Pro30Ser) variant details
- p.Pro30Ser
- rs541004726
- ClinGen CA394298324
- ClinVar RCV001056021
- 1000Genomes rs541004726
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.546
- CADD 16.50
- PolyPhen-2 0.01
- SIFT 0.08
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available