G37V (p.Gly37Val) variant of DSG1 (Desmoglein-1)
G37V (p.Gly37Val) in DSG1 (Desmoglein-1) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. 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.
G37V (p.Gly37Val) variant details
- p.Gly37Val
- Ensembl rs2071688977
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.493
- REVEL 0.34
- MetaLR 0.35
- MetaSVM -0.51
- CADD 25.80
- PolyPhen-2 0.85
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available