M62I (p.Met62Ile) variant of SHANK1 (Q9Y566)
M62I (p.Met62Ile) in SHANK1 (Q9Y566) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
M62I (p.Met62Ile) variant details
- p.Met62Ile
- gnomAD rs2089073957
- Missense
- Variant Prioritization Score for Impact Estimate 0.299
- REVEL 0.04
- MetaLR 0.05
- MetaSVM -1.05
- CADD 21.30
- PolyPhen-2 0.26
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available