T21I (p.Thr21Ile) variant of POT1 (Q9NUX5)
T21I (p.Thr21Ile) 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 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
T21I (p.Thr21Ile) variant details
- p.Thr21Ile
- rs758908412
- ClinGen CA4465514
- ClinVar RCV003319708
- ClinVar RCV003746674
- Uncertain significance
- not provided; Hereditary cancer-predisposing syndrome; Tumor predisposition synd
- Missense
- Variant Prioritization Score for Impact Estimate 0.19
- REVEL 0.08
- CADD 21.60
- PolyPhen-2 0.25
- SIFT 0.01
- ClinVar: Uncertain significance (not provided; Hereditary cancer-predisposing syndrome; Tumor pre)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 3.5e-05)
- Structural context available
- Cited in: POT1 Tumor Predisposition. (PMID 33119245)