A16T (p.Ala16Thr) variant of SHANK1 (Q9Y566)
A16T (p.Ala16Thr) in SHANK1 (Q9Y566) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
A16T (p.Ala16Thr) variant details
- p.Ala16Thr
- Ensembl rs2089076704
- Missense
- Variant Prioritization Score for Impact Estimate 0.232
- REVEL 0.03
- MetaLR 0.05
- MetaSVM -1.05
- CADD 19.40
- PolyPhen-2 0.00
- SIFT 0.08
- Most common in the Non-Finnish European population (allele frequency 9.5e-07)
- Structural context available