P28T (p.Pro28Thr) variant of NTHL1 (Endonuclease III-like protein 1)
P28T (p.Pro28Thr) 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 Hereditary cancer-predisposing syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
P28T (p.Pro28Thr) variant details
- p.Pro28Thr
- rs1056290046
- ClinGen CA394298336
- ClinVar RCV003104727
- ClinVar RCV003162124
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.184
- CADD 8.43
- PolyPhen-2 0.00
- SIFT 0.40
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)