P110S (p.Pro110Ser) variant of SHTN1 (Shootin-1)
P110S (p.Pro110Ser) in SHTN1 (Shootin-1) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
P110S (p.Pro110Ser) variant details
- p.Pro110Ser
- gnomAD rs1284367982
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.522
- REVEL 0.24
- ESM-1b 0.74
- AlphaMissense 0.30
- MetaLR 0.82
- MetaSVM 0.43
- CADD 26.10
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 0.00058)
- Structural context available