G130D (p.Gly130Asp) variant of SHTN1 (Shootin-1)
G130D (p.Gly130Asp) in SHTN1 (Shootin-1) is a missense change. Clinical records from ClinVar, EBI, 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 0.17 / 1. The record also includes population frequency data and structural context.
G130D (p.Gly130Asp) variant details
- p.Gly130Asp
- rs895028332
- ClinGen CA214679059
- ClinVar RCV004158731
- TOPMed rs895028332
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.173
- REVEL 0.06
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.48
- MetaSVM -0.70
- CADD 11.10
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:PIMA population (allele frequency 0.091)
- Structural context available