E9K (p.Glu9Lys) variant of SHANK1 (Q9Y566)
E9K (p.Glu9Lys) in SHANK1 (Q9Y566) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
E9K (p.Glu9Lys) variant details
- p.Glu9Lys
- cosmic curated COSV53253
- Ensembl rs2089077095
- Missense
- Variant Prioritization Score for Impact Estimate 0.351
- REVEL 0.13
- MetaLR 0.07
- MetaSVM -0.92
- CADD 23.90
- PolyPhen-2 0.10
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 3.5e-05)
- Structural context available