P5L (p.Pro5Leu) variant of MERTK (Tyrosine-protein kinase Mer)
P5L (p.Pro5Leu) in MERTK (Tyrosine-protein kinase Mer) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
P5L (p.Pro5Leu) variant details
- p.Pro5Leu
- rs766821604
- ClinGen CA1830942
- ClinVar RCV001374059
- ExAC rs766821604
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.134
- REVEL 0.07
- AlphaMissense 0.17
- MetaLR 0.13
- MetaSVM -1.01
- CADD 6.78
- PolyPhen-2 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available