I77T (p.Ile77Thr) variant of SHANK1 (Q9Y566)
I77T (p.Ile77Thr) in SHANK1 (Q9Y566) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
I77T (p.Ile77Thr) variant details
- p.Ile77Thr
- gnomAD rs1252376884
- Missense
- Variant Prioritization Score for Impact Estimate 0.416
- REVEL 0.31
- MetaLR 0.22
- MetaSVM -0.64
- CADD 26.20
- PolyPhen-2 0.67
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available