P37H (p.Pro37His) variant of SHANK1 (Q9Y566)
P37H (p.Pro37His) in SHANK1 (Q9Y566) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
P37H (p.Pro37His) variant details
- p.Pro37His
- gnomAD rs1262222366
- Missense
- Variant Prioritization Score for Impact Estimate 0.14
- REVEL 0.10
- MetaLR 0.05
- MetaSVM -1.06
- CADD 12.70
- PolyPhen-2 0.24
- SIFT 0.01
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available