I22V (p.Ile22Val) variant of POT1 (Q9NUX5)
I22V (p.Ile22Val) in POT1 (Q9NUX5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 8; Cer. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
I22V (p.Ile22Val) variant details
- p.Ile22Val
- rs375440229
- ClinGen CA4465513
- ClinVar RCV000504020
- ClinVar RCV000541787
- Conflicting interpretations
- Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 8; Cer
- Missense
- Variant Prioritization Score for Impact Estimate 0.0757
- REVEL 0.07
- CADD 0.31
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Conflicting classifications of pathogenicity (Pulmonary fibrosis and/or bone marrow failure syndrome, telomere)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:CEU population (allele frequency 0.0042)
- 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)
- Cited in: POT1 Tumor Predisposition. (PMID 33119245)