K50E (p.Lys50Glu) variant of SHTN1 (Shootin-1)
K50E (p.Lys50Glu) in SHTN1 (Shootin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
K50E (p.Lys50Glu) variant details
- p.Lys50Glu
- TOPMed rs1298520231
- gnomAD rs1298520231
- Missense
- Variant Prioritization Score for Impact Estimate 0.508
- REVEL 0.37
- ESM-1b 1.00
- AlphaMissense 0.19
- CADD 23.00
- PolyPhen-2 0.36
- SIFT 0.15
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available