V64I (p.Val64Ile) variant of SHANK1 (Q9Y566)
V64I (p.Val64Ile) in SHANK1 (Q9Y566) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
V64I (p.Val64Ile) variant details
- p.Val64Ile
- cosmic curated COSV53257
- ExAC rs774877899
- TOPMed rs774877899
- gnomAD rs774877899
- Missense
- Variant Prioritization Score for Impact Estimate 0.27
- REVEL 0.10
- MetaLR 0.10
- MetaSVM -0.98
- CADD 23.90
- PolyPhen-2 0.46
- SIFT 0.01
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available