L50P (p.Leu50Pro) variant of KRT8 (Keratin, type II cytoskeletal 8)
L50P (p.Leu50Pro) in KRT8 (Keratin, type II cytoskeletal 8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data.
L50P (p.Leu50Pro) variant details
- p.Leu50Pro
- TOPMed rs1941472861
- gnomAD rs1941472861
- Missense
- Variant Prioritization Score for Impact Estimate 0.325
- CADD 22.60
- Most common in the African/African-American population (allele frequency 0.00031)