D5G (p.Asp5Gly) variant of SHTN1 (Shootin-1)
D5G (p.Asp5Gly) in SHTN1 (Shootin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
D5G (p.Asp5Gly) variant details
- p.Asp5Gly
- TOPMed rs1240512991
- gnomAD rs1240512991
- Missense
- Variant Prioritization Score for Impact Estimate 0.348
- REVEL 0.35
- ESM-1b 0.00
- AlphaMissense 0.19
- CADD 22.80
- PolyPhen-2 0.08
- SIFT 0.52
- Most common in the HGDP:YORUBA population (allele frequency 0.048)
- Structural context available