P69T (p.Pro69Thr) variant of DSG1 (Desmoglein-1)
P69T (p.Pro69Thr) in DSG1 (Desmoglein-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 0.48 / 1. The record also includes population frequency data and structural context.
P69T (p.Pro69Thr) variant details
- p.Pro69Thr
- NCI-TCGA Cosmic COSV5713
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.481
- REVEL 0.32
- MetaLR 0.29
- MetaSVM -0.58
- CADD 24.70
- PolyPhen-2 0.99
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available