D67A (p.Asp67Ala) variant of SHANK1 (Q9Y566)
D67A (p.Asp67Ala) in SHANK1 (Q9Y566) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
D67A (p.Asp67Ala) variant details
- p.Asp67Ala
- TOPMed rs1378230346
- gnomAD rs1378230346
- Missense
- Variant Prioritization Score for Impact Estimate 0.279
- REVEL 0.07
- MetaLR 0.10
- MetaSVM -0.98
- CADD 23.80
- PolyPhen-2 0.08
- SIFT 0.01
- Most common in the South Asian population (allele frequency 0.00041)
- Structural context available