P65L (p.Pro65Leu) variant of SHANK1 (Q9Y566)
P65L (p.Pro65Leu) in SHANK1 (Q9Y566) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
P65L (p.Pro65Leu) variant details
- p.Pro65Leu
- ExAC rs772098608
- gnomAD rs772098608
- Missense
- Variant Prioritization Score for Impact Estimate 0.326
- REVEL 0.13
- MetaLR 0.10
- MetaSVM -0.99
- CADD 23.60
- PolyPhen-2 0.83
- SIFT 0.04
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available