R3P (p.Arg3Pro) variant of PCDH15 (Protocadherin-15)
R3P (p.Arg3Pro) in PCDH15 (Protocadherin-15) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data.
R3P (p.Arg3Pro) variant details
- p.Arg3Pro
- 1000Genomes rs372085398
- ESP rs372085398
- ExAC rs372085398
- TOPMed rs372085398
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.15
- MetaLR 0.11
- MetaSVM -1.01
- CADD 6.47
- PolyPhen-2 0.00
- SIFT 0.11
- ClinVar: Uncertain significance (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 3e-05)