C140R (p.Cys140Arg) variant of SHTN1 (Shootin-1)
C140R (p.Cys140Arg) in SHTN1 (Shootin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
C140R (p.Cys140Arg) variant details
- p.Cys140Arg
- ExAC rs745627307
- gnomAD rs745627307
- Missense
- Variant Prioritization Score for Impact Estimate 0.724
- REVEL 0.68
- ESM-1b 1.00
- AlphaMissense 0.72
- MetaLR 0.83
- MetaSVM 0.69
- CADD 29.40
- Most common in the HGDP:BANTUKENYA population (allele frequency 0.2)
- Structural context available