P33S (p.Pro33Ser) variant of SHANK1 (Q9Y566)
P33S (p.Pro33Ser) 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.
P33S (p.Pro33Ser) variant details
- p.Pro33Ser
- gnomAD rs1192965719
- Missense
- Variant Prioritization Score for Impact Estimate 0.294
- REVEL 0.09
- MetaLR 0.05
- MetaSVM -1.02
- CADD 23.20
- PolyPhen-2 0.17
- SIFT 0.01
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available