L137P (p.Leu137Pro) variant of SHANK1 (Q9Y566)
L137P (p.Leu137Pro) in SHANK1 (Q9Y566) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
L137P (p.Leu137Pro) variant details
- p.Leu137Pro
- ExAC rs747043906
- gnomAD rs747043906
- Missense
- Variant Prioritization Score for Impact Estimate 0.342
- REVEL 0.21
- MetaLR 0.04
- MetaSVM -1.08
- CADD 23.20
- PolyPhen-2 0.04
- SIFT 0.11
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available