H42Y (p.His42Tyr) variant of DSG1 (Desmoglein-1)
H42Y (p.His42Tyr) 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 0.22 / 1. The record also includes population frequency data and structural context.
H42Y (p.His42Tyr) variant details
- p.His42Tyr
- rs767566563
- NCI-TCGA Cosmic COSV9993
- ExAC rs767566563
- gnomAD rs767566563
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.222
- REVEL 0.12
- MetaLR 0.18
- MetaSVM -0.84
- CADD 19.90
- PolyPhen-2 0.58
- SIFT 0.14
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available