P25H (p.Pro25His) variant of BRCA1 (P38398)
P25H (p.Pro25His) in BRCA1 (P38398) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.99 / 1. The record also includes experimental measurements and structural context.
P25H (p.Pro25His) variant details
- p.Pro25His
- Ensembl rs876660096
- Likely pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.987
- ESM-1b 1.00
- AlphaMissense 0.97
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Enrich2 amino acid variant scores for BRCA1 E3: score -4.68