R5K (p.Arg5Lys) variant of NF1 (Neurofibromin)
R5K (p.Arg5Lys) in NF1 (Neurofibromin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
R5K (p.Arg5Lys) variant details
- p.Arg5Lys
- Ensembl rs2143144621
- Missense
- Variant Prioritization Score for Impact Estimate 0.294
- REVEL 0.06
- AlphaMissense 0.91
- MetaLR 0.01
- MetaSVM -0.95
- CADD 19.80
- PolyPhen-2 0.59
- Most common in the African/African-American population (allele frequency 3.2e-05)
- Structural context available