N91S (p.Asn91Ser) variant of SHTN1 (Shootin-1)
N91S (p.Asn91Ser) in SHTN1 (Shootin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
N91S (p.Asn91Ser) variant details
- p.Asn91Ser
- TOPMed rs1849892139
- gnomAD rs1849892139
- Missense
- Variant Prioritization Score for Impact Estimate 0.527
- REVEL 0.35
- ESM-1b 1.00
- AlphaMissense 0.10
- MetaLR 0.78
- MetaSVM 0.39
- CADD 25.00
- Most common in the Ashkenazi Jewish population (allele frequency 0.00058)
- Structural context available