Q9R (p.Gln9Arg) variant of SHTN1 (Shootin-1)
Q9R (p.Gln9Arg) in SHTN1 (Shootin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
Q9R (p.Gln9Arg) variant details
- p.Gln9Arg
- gnomAD rs1429782251
- Missense
- Variant Prioritization Score for Impact Estimate 0.371
- REVEL 0.28
- ESM-1b 0.00
- AlphaMissense 0.28
- CADD 24.30
- PolyPhen-2 0.89
- SIFT 0.33
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available