R54P (p.Arg54Pro) variant of SHANK3 (Q9BYB0)
R54P (p.Arg54Pro) in SHANK3 (Q9BYB0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
R54P (p.Arg54Pro) variant details
- p.Arg54Pro
- gnomAD 22-50675166-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.368
- REVEL 0.21
- CADD 23.00
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available