P34S (p.Pro34Ser) variant of POT1 (Q9NUX5)
P34S (p.Pro34Ser) in POT1 (Q9NUX5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Hereditary cancer-predisposing syndrome; Tumor predisposition synd. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
P34S (p.Pro34Ser) variant details
- p.Pro34Ser
- rs1221080304
- ClinGen CA369066019
- ClinVar RCV002441633
- ClinVar RCV003314735
- Uncertain significance
- not provided; Hereditary cancer-predisposing syndrome; Tumor predisposition synd
- Missense
- Variant Prioritization Score for Impact Estimate 0.441
- REVEL 0.22
- CADD 23.80
- PolyPhen-2 1.00
- SIFT 0.09
- ClinVar: Uncertain significance (not provided; Hereditary cancer-predisposing syndrome; Tumor pre)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- 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)