A142P (p.Ala142Pro) variant of PCDH19 (Protocadherin-19)
A142P (p.Ala142Pro) in PCDH19 (Protocadherin-19) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes structural context.
A142P (p.Ala142Pro) variant details
- p.Ala142Pro
- rs796052798
- ClinGen CA316293
- ClinVar RCV000188348
- Ensembl rs796052798
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.582
- AlphaMissense 0.98
- MetaLR 0.46
- MetaSVM 0.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.79
- ClinVar: Likely pathogenic (not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available