H3Q (p.His3Gln) variant of SHANK1 (Q9Y566)
H3Q (p.His3Gln) in SHANK1 (Q9Y566) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
H3Q (p.His3Gln) variant details
- p.His3Gln
- gnomAD rs1364976025
- Missense
- Variant Prioritization Score for Impact Estimate 0.315
- REVEL 0.08
- MetaLR 0.04
- MetaSVM -1.02
- CADD 21.20
- PolyPhen-2 0.00
- SIFT 0.28
- Most common in the Non-Finnish European population (allele frequency 1.9e-06)
- Structural context available