S82G (p.Ser82Gly) variant of SHTN1 (Shootin-1)
S82G (p.Ser82Gly) in SHTN1 (Shootin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
S82G (p.Ser82Gly) variant details
- p.Ser82Gly
- ESP rs371350473
- ExAC rs371350473
- TOPMed rs371350473
- gnomAD rs371350473
- Missense
- Variant Prioritization Score for Impact Estimate 0.614
- REVEL 0.49
- ESM-1b 1.00
- AlphaMissense 0.24
- MetaLR 0.84
- MetaSVM 0.76
- CADD 26.70
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available