D31N (p.Asp31Asn) variant of PCDH15 (Protocadherin-15)
D31N (p.Asp31Asn) in PCDH15 (Protocadherin-15) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data.
D31N (p.Asp31Asn) variant details
- p.Asp31Asn
- rs974331761
- Ensembl rs974331761
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.64
- MetaLR 0.17
- MetaSVM -0.90
- CADD 32.00
- PolyPhen-2 0.02
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)