L21R (p.Leu21Arg) variant of SHANK3 (Q9BYB0)
L21R (p.Leu21Arg) 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.
L21R (p.Leu21Arg) variant details
- p.Leu21Arg
- gnomAD 22-50674694-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.304
- REVEL 0.15
- CADD 26.80
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available