L61R (p.Leu61Arg) variant of PCDH15 (Protocadherin-15)
L61R (p.Leu61Arg) 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 0.51 / 1. The record also includes population frequency data.
L61R (p.Leu61Arg) variant details
- p.Leu61Arg
- rs1050414439
- ClinGen CA207588275
- ClinVar RCV001897339
- TOPMed rs1050414439
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.505
- MetaLR 0.19
- MetaSVM -0.87
- CADD 23.80
- PolyPhen-2 0.29
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 9e-05)