Q94R (p.Gln94Arg) variant of SHANK3 (Q9BYB0)
Q94R (p.Gln94Arg) in SHANK3 (Q9BYB0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
Q94R (p.Gln94Arg) variant details
- p.Gln94Arg
- gnomAD 22-50675154-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.323
- REVEL 0.13
- CADD 25.50
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available