L50P (p.Leu50Pro) variant of KRT16 (Keratin, type I cytoskeletal 16)
L50P (p.Leu50Pro) in KRT16 (Keratin, type I cytoskeletal 16) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
L50P (p.Leu50Pro) variant details
- p.Leu50Pro
- TOPMed rs1225935439
- gnomAD rs1225935439
- Missense
- Variant Prioritization Score for Impact Estimate 0.391
- REVEL 0.34
- CADD 23.40
- PolyPhen-2 0.58
- SIFT 0.21
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available