H3R (p.His3Arg) variant of SHANK1 (Q9Y566)
H3R (p.His3Arg) in SHANK1 (Q9Y566) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
H3R (p.His3Arg) variant details
- p.His3Arg
- TOPMed rs926922293
- Missense
- Variant Prioritization Score for Impact Estimate 0.231
- REVEL 0.08
- MetaLR 0.03
- MetaSVM -0.98
- CADD 18.60
- PolyPhen-2 0.00
- SIFT 0.33
- Most common in the South Asian population (allele frequency 1.6e-05)
- Structural context available