M11I (p.Met11Ile) variant of DSG1 (Desmoglein-1)
M11I (p.Met11Ile) in DSG1 (Desmoglein-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
M11I (p.Met11Ile) variant details
- p.Met11Ile
- Ensembl rs1598693320
- Missense
- Variant Prioritization Score for Impact Estimate 0.175
- REVEL 0.05
- MetaLR 0.06
- MetaSVM -1.09
- CADD 19.00
- PolyPhen-2 0.00
- SIFT 0.09
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available