K48T (p.Lys48Thr) variant of C9ORF72 (Q96LT7)
K48T (p.Lys48Thr) in C9ORF72 (Q96LT7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
K48T (p.Lys48Thr) variant details
- p.Lys48Thr
- gnomAD rs1370119959
- Missense
- Variant Prioritization Score for Impact Estimate 0.381
- REVEL 0.20
- CADD 24.00
- PolyPhen-2 0.64
- SIFT 0.11
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available