P69H (p.Pro69His) variant of DSC2 (Desmocollin-2)
P69H (p.Pro69His) in DSC2 (Desmocollin-2) is a missense change. 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.
P69H (p.Pro69His) variant details
- p.Pro69His
- cosmic curated COSV99199
- gnomAD rs1987627582
- Missense
- Variant Prioritization Score for Impact Estimate 0.482
- REVEL 0.34
- CADD 26.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available