D38H (p.Asp38His) variant of VKORC1 (Q9BQB6)
D38H (p.Asp38His) in VKORC1 (Q9BQB6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
D38H (p.Asp38His) variant details
- p.Asp38His
- rs774078258
- ClinGen CA8021292
- ClinVar RCV004482560
- ExAC rs774078258
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.617
- REVEL 0.53
- CADD 20.60
- PolyPhen-2 0.01
- SIFT 0.11
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available