I74M (p.Ile74Met) variant of PCDH19 (Protocadherin-19)
I74M (p.Ile74Met) in PCDH19 (Protocadherin-19) 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 0.40 / 1. The record also includes structural context.
I74M (p.Ile74Met) variant details
- p.Ile74Met
- rs1064797378
- ClinGen CA16621903
- ClinVar RCV000487980
- gnomAD rs1064797378
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.397
- AlphaMissense 0.47
- MetaLR 0.21
- MetaSVM -0.72
- PolyPhen-2 0.93
- SIFT 0.00
- EVE 0.34
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available