D47N (p.Asp47Asn) variant of PCDH15 (Protocadherin-15)
D47N (p.Asp47Asn) in PCDH15 (Protocadherin-15) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Aganglionic megacolon. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data.
D47N (p.Asp47Asn) variant details
- p.Asp47Asn
- rs1589906631
- ClinGen CA376541417
- NCI-TCGA Cosmic COSV1002
- cosmic curated COSV10022
- Uncertain significance
- Aganglionic megacolon
- Missense
- Variant Prioritization Score for Impact Estimate 0.644
- MetaLR 0.23
- MetaSVM -0.58
- CADD 27.70
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Uncertain significance (Aganglionic megacolon)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)