Q8K (p.Gln8Lys) variant of BEST1 (Bestrophin-1)
Q8K (p.Gln8Lys) in BEST1 (Bestrophin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
Q8K (p.Gln8Lys) variant details
- p.Gln8Lys
- gnomAD 11-61951828-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.38
- REVEL 0.44
- CADD 14.40
- PolyPhen-2 0.00
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available