D111E (p.Asp111Glu) variant of SHTN1 (Shootin-1)
D111E (p.Asp111Glu) in SHTN1 (Shootin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
D111E (p.Asp111Glu) variant details
- p.Asp111Glu
- TOPMed rs1849890784
- gnomAD rs1849890784
- Missense
- Variant Prioritization Score for Impact Estimate 0.246
- REVEL 0.20
- ESM-1b 0.00
- AlphaMissense 0.12
- MetaLR 0.42
- MetaSVM -0.70
- CADD 14.20
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available