T80M (p.Thr80Met) variant of PRMT5 (O14744)
T80M (p.Thr80Met) in PRMT5 (O14744) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
T80M (p.Thr80Met) variant details
- p.Thr80Met
- NCI-TCGA Cosmic COSV5354
- cosmic curated COSV53547
- TOPMed rs2044469095
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.52
- REVEL 0.31
- CADD 28.80
- PolyPhen-2 0.85
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available