P33S (p.Pro33Ser) variant of TERT (Telomerase reverse transcriptase)
P33S (p.Pro33Ser) in TERT (Telomerase reverse transcriptase) is a missense change. Clinical records from ClinVar and UniProt describe it as likely risk allele in the context of Pulmonary fibrosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
P33S (p.Pro33Ser) variant details
- p.Pro33Ser
- rs199422289
- ClinGen CA343464
- ClinVar RCV000032401
- ClinVar RCV002509179
- Likely risk allele
- Pulmonary fibrosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.472
- REVEL 0.61
- MetaLR 0.55
- MetaSVM -0.12
- CADD 14.20
- PolyPhen-2 0.08
- SIFT 0.17
- ClinVar: Likely risk allele (Pulmonary fibrosis)
- UniProt: Likely risk allele
- Most common in the Ashkenazi Jewish population (allele frequency 4.6e-05)
- Structural context available
- Cited in: Pulmonary Fibrosis Predisposition Overview. (PMID 20301408)