P48R (p.Pro48Arg) variant of SHANK1 (Q9Y566)
P48R (p.Pro48Arg) in SHANK1 (Q9Y566) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
P48R (p.Pro48Arg) variant details
- p.Pro48Arg
- ExAC rs756211849
- gnomAD rs756211849
- Missense
- Variant Prioritization Score for Impact Estimate 0.361
- REVEL 0.15
- MetaLR 0.05
- MetaSVM -1.04
- CADD 23.50
- PolyPhen-2 0.28
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available