K22T (p.Lys22Thr) variant of C9ORF72 (Q96LT7)
K22T (p.Lys22Thr) in C9ORF72 (Q96LT7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
K22T (p.Lys22Thr) variant details
- p.Lys22Thr
- TOPMed rs1819485216
- Missense
- Variant Prioritization Score for Impact Estimate 0.303
- REVEL 0.09
- CADD 22.30
- PolyPhen-2 0.01
- SIFT 0.18
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available