G42A (p.Gly42Ala) variant of SHANK1 (Q9Y566)
G42A (p.Gly42Ala) in SHANK1 (Q9Y566) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
G42A (p.Gly42Ala) variant details
- p.Gly42Ala
- TOPMed rs1337761678
- gnomAD rs1337761678
- Missense
- Variant Prioritization Score for Impact Estimate 0.265
- REVEL 0.18
- MetaLR 0.05
- MetaSVM -1.08
- CADD 17.00
- PolyPhen-2 0.62
- SIFT 0.08
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available