A877P (p.Ala877Pro) variant of RET (P07949)
A877P (p.Ala877Pro) in RET (P07949) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hirschsprung disease, susceptibility to, 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data and structural context.
A877P (p.Ala877Pro) variant details
- p.Ala877Pro
- rs1838178869
- ClinGen CA376557057
- ClinVar RCV001089963
- Ensembl rs1838178869
- Likely pathogenic
- Hirschsprung disease, susceptibility to, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.851
- REVEL 0.87
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Hirschsprung disease, susceptibility to, 1)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available