F62S (p.Phe62Ser) variant of SHANK3 (Q9BYB0)
F62S (p.Phe62Ser) in SHANK3 (Q9BYB0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
F62S (p.Phe62Ser) variant details
- p.Phe62Ser
- rs2082909615
- gnomAD 22-50675151-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.421
- REVEL 0.27
- CADD 30.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available