N11K (p.Asn11Lys) variant of DSC2 (Desmocollin-2)
N11K (p.Asn11Lys) in DSC2 (Desmocollin-2) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
N11K (p.Asn11Lys) variant details
- p.Asn11Lys
- Ensembl rs1987976628
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.15
- REVEL 0.07
- CADD 8.48
- PolyPhen-2 0.00
- SIFT 0.80
- EBI: Likely benign (in dbSNP:rs868333)
- UniProt: Likely benign (in dbSNP:rs868333)
- Population evidence available
- Structural context available