H57P (p.His57Pro) variant of ABCC6 (O95255)
H57P (p.His57Pro) in ABCC6 (O95255) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
H57P (p.His57Pro) variant details
- p.His57Pro
- 1000Genomes rs374778258
- ESP rs374778258
- ExAC rs374778258
- TOPMed rs374778258
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.256
- REVEL 0.12
- CADD 19.10
- PolyPhen-2 0.18
- SIFT 0.05
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00013)
- Structural context available