H14R (p.His14Arg) variant of SHANK1 (Q9Y566)
H14R (p.His14Arg) in SHANK1 (Q9Y566) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
H14R (p.His14Arg) variant details
- p.His14Arg
- Ensembl rs865840319
- Missense
- Variant Prioritization Score for Impact Estimate 0.176
- REVEL 0.10
- MetaLR 0.03
- MetaSVM -1.03
- CADD 17.30
- PolyPhen-2 0.00
- SIFT 0.24
- Most common in the REMAINING population (allele frequency 1.8e-05)
- Structural context available