P6H (p.Pro6His) variant of CHM (P24386)
P6H (p.Pro6His) in CHM (P24386) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Choroideremia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
P6H (p.Pro6His) variant details
- p.Pro6His
- ExAC rs201252021
- TOPMed rs201252021
- gnomAD rs201252021
- Uncertain significance
- Choroideremia
- Missense
- Variant Prioritization Score for Impact Estimate 0.438
- REVEL 0.43
- MetaLR 0.40
- MetaSVM -0.15
- CADD 24.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Choroideremia)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.9e-05)
- Structural context available