P58S (p.Pro58Ser) variant of SHANK3 (Q9BYB0)
P58S (p.Pro58Ser) in SHANK3 (Q9BYB0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
P58S (p.Pro58Ser) variant details
- p.Pro58Ser
- gnomAD 22-50675156-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.403
- REVEL 0.18
- CADD 24.40
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available