R38Q (p.Arg38Gln) variant of SHANK1 (Q9Y566)
R38Q (p.Arg38Gln) in SHANK1 (Q9Y566) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
R38Q (p.Arg38Gln) variant details
- p.Arg38Gln
- cosmic curated COSV53249
- ExAC rs764819969
- TOPMed rs764819969
- Missense
- Variant Prioritization Score for Impact Estimate 0.154
- REVEL 0.04
- MetaLR 0.04
- MetaSVM -1.02
- CADD 16.20
- PolyPhen-2 0.00
- SIFT 0.27
- Most common in the South Asian population (allele frequency 8.4e-05)
- Structural context available