D39N (p.Asp39Asn) variant of SHTN1 (Shootin-1)
D39N (p.Asp39Asn) 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 0.38 / 1. The record also includes population frequency data and structural context.
D39N (p.Asp39Asn) variant details
- p.Asp39Asn
- TOPMed rs1315034361
- gnomAD rs1315034361
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.384
- REVEL 0.13
- ESM-1b 0.35
- AlphaMissense 0.10
- CADD 24.60
- PolyPhen-2 0.84
- SIFT 0.10
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:YORUBA population (allele frequency 0.048)
- Structural context available