R33T (p.Arg33Thr) variant of PSEN1 (Presenilin-1)
R33T (p.Arg33Thr) in PSEN1 (Presenilin-1) 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 0.49 / 1. The record also includes population frequency data and structural context.
R33T (p.Arg33Thr) variant details
- p.Arg33Thr
- rs777371921
- NCI-TCGA Cosmic COSV5619
- cosmic curated COSV56195
- ExAC rs777371921
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.491
- REVEL 0.54
- CADD 18.90
- PolyPhen-2 0.01
- SIFT 0.27
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Ashkenazi Jewish population (allele frequency 7.7e-05)
- Structural context available