C38Y (p.Cys38Tyr) variant of SHTN1 (Shootin-1)
C38Y (p.Cys38Tyr) in SHTN1 (Shootin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
C38Y (p.Cys38Tyr) variant details
- p.Cys38Tyr
- TOPMed rs994232475
- gnomAD rs994232475
- Missense
- Variant Prioritization Score for Impact Estimate 0.47
- REVEL 0.37
- ESM-1b 0.00
- AlphaMissense 0.35
- CADD 22.90
- PolyPhen-2 0.26
- SIFT 0.54
- Most common in the 1KG:YRI population (allele frequency 0.13)
- Structural context available