S947P (p.Ser947Pro) variant of TERT (Telomerase reverse transcriptase)
S947P (p.Ser947Pro) in TERT (Telomerase reverse transcriptase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Dyskeratosis congenita. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes published literature and structural context.
S947P (p.Ser947Pro) variant details
- p.Ser947Pro
- rs915854031
- ClinGen CA359071372
- ClinVar RCV000786862
- Ensembl rs915854031
- Pathogenic
- Dyskeratosis congenita
- Missense
- Variant Prioritization Score for Impact Estimate 0.544
- AlphaMissense 0.58
- MetaLR 0.47
- MetaSVM -0.09
- PolyPhen-2 0.99
- SIFT 0.01
- EVE 0.66
- ClinVar: Pathogenic (Dyskeratosis congenita)
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)