A5T (p.Ala5Thr) variant of PRMT5 (O14744)
A5T (p.Ala5Thr) 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 0.40 / 1. The record also includes population frequency data and structural context.
A5T (p.Ala5Thr) variant details
- p.Ala5Thr
- rs1259929505
- NCI-TCGA Cosmic COSV5354
- cosmic curated COSV53544
- TOPMed rs1259929505
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.405
- REVEL 0.20
- CADD 25.50
- PolyPhen-2 0.96
- SIFT 0.21
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available