R54Q (p.Arg54Gln) variant of SHANK3 (Q9BYB0)
R54Q (p.Arg54Gln) in SHANK3 (Q9BYB0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
R54Q (p.Arg54Gln) variant details
- p.Arg54Gln
- rs566328506
- gnomAD 22-50675166-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.304
- REVEL 0.09
- CADD 23.00
- SIFT 0.07
- Population evidence available
- Structural context available
- Literature evidence available