L42P (p.Leu42Pro) variant of KRT17 (Keratin, type I cytoskeletal 17)
L42P (p.Leu42Pro) in KRT17 (Keratin, type I cytoskeletal 17) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
L42P (p.Leu42Pro) variant details
- p.Leu42Pro
- rs375582148
- ClinGen CA8563839
- ClinVar RCV003734048
- ESP rs375582148
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.414
- REVEL 0.37
- CADD 20.40
- PolyPhen-2 0.00
- SIFT 0.14
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available