M87I (p.Met87Ile) variant of PCDH15 (Protocadherin-15)
M87I (p.Met87Ile) 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.
M87I (p.Met87Ile) variant details
- p.Met87Ile
- rs1289815447
- ClinGen CA376540527
- cosmic curated COSV10520
- ClinVar RCV002001858
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.508
- MetaLR 0.08
- MetaSVM -1.05
- CADD 22.80
- PolyPhen-2 0.01
- 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 4.8e-05)