D51V (p.Asp51Val) variant of POT1 (Q9NUX5)
D51V (p.Asp51Val) in POT1 (Q9NUX5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and structural context.
D51V (p.Asp51Val) variant details
- p.Asp51Val
- gnomAD rs1305344800
- Missense
- Variant Prioritization Score for Impact Estimate 0.805
- REVEL 0.91
- CADD 29.20
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available