P5T (p.Pro5Thr) variant of SHANK1 (Q9Y566)
P5T (p.Pro5Thr) in SHANK1 (Q9Y566) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
P5T (p.Pro5Thr) variant details
- p.Pro5Thr
- gnomAD rs1405250162
- Missense
- Variant Prioritization Score for Impact Estimate 0.386
- REVEL 0.19
- MetaLR 0.12
- MetaSVM -0.81
- CADD 23.70
- PolyPhen-2 0.43
- SIFT 0.00
- Most common in the East Asian population (allele frequency 0.00024)
- Structural context available