S24P (p.Ser24Pro) variant of SHANK1 (Q9Y566)
S24P (p.Ser24Pro) in SHANK1 (Q9Y566) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
S24P (p.Ser24Pro) variant details
- p.Ser24Pro
- cosmic curated COSV53252
- Ensembl rs2123209463
- Missense
- Variant Prioritization Score for Impact Estimate 0.29
- REVEL 0.07
- MetaLR 0.09
- MetaSVM -0.94
- CADD 26.30
- PolyPhen-2 0.55
- SIFT 0.00
- Population evidence available
- Structural context available