A68D (p.Ala68Asp) variant of SHANK1 (Q9Y566)
A68D (p.Ala68Asp) in SHANK1 (Q9Y566) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
A68D (p.Ala68Asp) variant details
- p.Ala68Asp
- Ensembl rs2089073520
- Missense
- Variant Prioritization Score for Impact Estimate 0.41
- REVEL 0.22
- MetaLR 0.12
- MetaSVM -0.92
- CADD 25.50
- PolyPhen-2 0.61
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available