D27Y (p.Asp27Tyr) variant of SHANK1 (Q9Y566)
D27Y (p.Asp27Tyr) in SHANK1 (Q9Y566) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
D27Y (p.Asp27Tyr) variant details
- p.Asp27Tyr
- 1000Genomes rs533410806
- ExAC rs533410806
- TOPMed rs533410806
- gnomAD rs533410806
- Missense
- Variant Prioritization Score for Impact Estimate 0.348
- REVEL 0.20
- MetaLR 0.14
- MetaSVM -0.87
- CADD 25.80
- PolyPhen-2 0.87
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available