I96V (p.Ile96Val) variant of SHANK1 (Q9Y566)
I96V (p.Ile96Val) in SHANK1 (Q9Y566) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
I96V (p.Ile96Val) variant details
- p.Ile96Val
- TOPMed rs1158453778
- gnomAD rs1158453778
- Missense
- Variant Prioritization Score for Impact Estimate 0.247
- REVEL 0.05
- MetaLR 0.01
- MetaSVM -0.94
- CADD 17.00
- PolyPhen-2 0.01
- SIFT 0.82
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available