R51W (p.Arg51Trp) variant of PCDH15 (Protocadherin-15)
R51W (p.Arg51Trp) in PCDH15 (Protocadherin-15) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data.
R51W (p.Arg51Trp) variant details
- p.Arg51Trp
- rs759774914
- NCI-TCGA Cosmic COSV1002
- cosmic curated COSV10021
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.509
- MetaLR 0.19
- MetaSVM -0.93
- CADD 26.30
- PolyPhen-2 0.96
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 3.5e-05)