G22D (p.Gly22Asp) variant of SHTN1 (Shootin-1)
G22D (p.Gly22Asp) in SHTN1 (Shootin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
G22D (p.Gly22Asp) variant details
- p.Gly22Asp
- ExAC rs755289740
- gnomAD rs755289740
- Missense
- Variant Prioritization Score for Impact Estimate 0.502
- REVEL 0.41
- ESM-1b 0.00
- AlphaMissense 0.65
- CADD 23.40
- PolyPhen-2 1.00
- SIFT 0.88
- Most common in the HGDP:DRUZE population (allele frequency 0.1)
- Structural context available