M60I (p.Met60Ile) variant of PCDH15 (Protocadherin-15)
M60I (p.Met60Ile) 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; Usher syndrome type 1F. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and published literature.
M60I (p.Met60Ile) variant details
- p.Met60Ile
- rs1275245579
- ClinGen CA376540700
- ClinVar RCV002810020
- ClinVar RCV004593208
- Uncertain significance
- not provided; Usher syndrome type 1F
- Missense
- Variant Prioritization Score for Impact Estimate 0.604
- MetaLR 0.16
- MetaSVM -0.81
- CADD 25.20
- PolyPhen-2 0.09
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; Usher syndrome type 1F)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00023)
- Cited in: Usher Syndrome Type I. (PMID 20301442)
- Cited in: Clinical utility gene card for: Usher syndrome. (PMID 21697857)