P33L (p.Pro33Leu) variant of TERT (Telomerase reverse transcriptase)
P33L (p.Pro33Leu) in TERT (Telomerase reverse transcriptase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Dyskeratosis congenita; Dyskeratosis congenita, autosomal dominant 2; Idiopathic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
P33L (p.Pro33Leu) variant details
- p.Pro33Leu
- rs2126692176
- ClinGen CA359059375
- ClinVar RCV002554261
- ClinVar RCV005503233
- Uncertain significance
- Dyskeratosis congenita; Dyskeratosis congenita, autosomal dominant 2; Idiopathic
- Missense
- Variant Prioritization Score for Impact Estimate 0.241
- REVEL 0.16
- MetaLR 0.38
- MetaSVM -0.62
- CADD 17.30
- PolyPhen-2 0.00
- SIFT 0.09
- ClinVar: Uncertain significance (Dyskeratosis congenita; Dyskeratosis congenita, autosomal domina)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Dyskeratosis Congenita and Related Telomere Biology Disorders. (PMID 20301779)
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)