P48A (p.Pro48Ala) variant of SHANK1 (Q9Y566)
P48A (p.Pro48Ala) 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.
P48A (p.Pro48Ala) variant details
- p.Pro48Ala
- ExAC rs777918685
- TOPMed rs777918685
- gnomAD rs777918685
- Missense
- Variant Prioritization Score for Impact Estimate 0.25
- REVEL 0.05
- MetaLR 0.04
- MetaSVM -1.05
- CADD 22.70
- PolyPhen-2 0.04
- SIFT 0.05
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available