L50R (p.Leu50Arg) variant of KRT16 (Keratin, type I cytoskeletal 16)
L50R (p.Leu50Arg) in KRT16 (Keratin, type I cytoskeletal 16) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
L50R (p.Leu50Arg) variant details
- p.Leu50Arg
- TOPMed rs1225935439
- gnomAD rs1225935439
- Missense
- Variant Prioritization Score for Impact Estimate 0.349
- REVEL 0.27
- CADD 21.70
- PolyPhen-2 0.26
- SIFT 0.35
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available