R143K (p.Arg143Lys) variant of C9ORF72 (Q96LT7)
R143K (p.Arg143Lys) in C9ORF72 (Q96LT7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
R143K (p.Arg143Lys) variant details
- p.Arg143Lys
- Ensembl rs1819473436
- Missense
- Variant Prioritization Score for Impact Estimate 0.518
- REVEL 0.32
- CADD 26.50
- PolyPhen-2 0.88
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available