L8P (p.Leu8Pro) variant of MERTK (Tyrosine-protein kinase Mer)
L8P (p.Leu8Pro) in MERTK (Tyrosine-protein kinase Mer) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
L8P (p.Leu8Pro) variant details
- p.Leu8Pro
- Ensembl rs867971321
- Missense
- Variant Prioritization Score for Impact Estimate 0.253
- REVEL 0.15
- MetaLR 0.21
- MetaSVM -0.90
- CADD 22.00
- PolyPhen-2 0.00
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available