Q22R (p.Gln22Arg) variant of HTT (Huntingtin)
Q22R (p.Gln22Arg) in HTT (Huntingtin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
Q22R (p.Gln22Arg) variant details
- p.Gln22Arg
- Ensembl rs1578474941
- Missense
- Variant Prioritization Score for Impact Estimate 0.323
- MetaLR 0.18
- MetaSVM -0.89
- CADD 15.20
- PolyPhen-2 0.00
- SIFT 0.24
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available