S79L (p.Ser79Leu) variant of ANKRD1 (Q15327)
S79L (p.Ser79Leu) in ANKRD1 (Q15327) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
S79L (p.Ser79Leu) variant details
- p.Ser79Leu
- 1000Genomes rs2120272016
- Missense
- Variant Prioritization Score for Impact Estimate 0.448
- REVEL 0.24
- CADD 22.70
- PolyPhen-2 0.00
- SIFT 0.83
- Population evidence available
- Structural context available