M62V (p.Met62Val) variant of SHANK1 (Q9Y566)
M62V (p.Met62Val) 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.
M62V (p.Met62Val) variant details
- p.Met62Val
- TOPMed rs1020603187
- gnomAD rs1020603187
- Missense
- Variant Prioritization Score for Impact Estimate 0.253
- REVEL 0.05
- MetaLR 0.05
- MetaSVM -1.07
- CADD 19.90
- PolyPhen-2 0.17
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available