P48S (p.Pro48Ser) variant of SHANK1 (Q9Y566)
P48S (p.Pro48Ser) in SHANK1 (Q9Y566) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
P48S (p.Pro48Ser) variant details
- p.Pro48Ser
- cosmic curated COSV10880
- ExAC rs777918685
- TOPMed rs777918685
- gnomAD rs777918685
- Missense
- Variant Prioritization Score for Impact Estimate 0.246
- REVEL 0.05
- MetaLR 0.04
- MetaSVM -1.06
- CADD 21.60
- PolyPhen-2 0.01
- SIFT 0.13
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available