R51Q (p.Arg51Gln) variant of PCDH15 (Protocadherin-15)
R51Q (p.Arg51Gln) 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 0.53 / 1. The record also includes population frequency data.
R51Q (p.Arg51Gln) variant details
- p.Arg51Gln
- rs774448079
- ClinGen CA5506786
- NCI-TCGA Cosmic COSV5728
- cosmic curated COSV57284
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.529
- MetaLR 0.11
- MetaSVM -1.06
- CADD 23.80
- PolyPhen-2 0.47
- SIFT 0.02
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.2e-05)