V54I (p.Val54Ile) variant of SHANK1 (Q9Y566)
V54I (p.Val54Ile) in SHANK1 (Q9Y566) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data and structural context.
V54I (p.Val54Ile) variant details
- p.Val54Ile
- ExAC rs751880773
- gnomAD rs751880773
- Missense
- Variant Prioritization Score for Impact Estimate 0.0654
- REVEL 0.02
- MetaLR 0.04
- MetaSVM -1.06
- CADD 0.03
- PolyPhen-2 0.00
- SIFT 0.56
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available