P36L (p.Pro36Leu) variant of MERTK (Tyrosine-protein kinase Mer)
P36L (p.Pro36Leu) in MERTK (Tyrosine-protein kinase Mer) 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 0.16 / 1. The record also includes population frequency data and structural context.
P36L (p.Pro36Leu) variant details
- p.Pro36Leu
- rs150870104
- ClinGen CA1830981
- ClinVar RCV000955958
- 1000Genomes rs150870104
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.155
- REVEL 0.12
- MetaLR 0.16
- MetaSVM -0.89
- CADD 0.46
- PolyPhen-2 0.00
- SIFT 0.03
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:SAN population (allele frequency 0.17)
- Structural context available