L51S (p.Leu51Ser) variant of MERTK (Tyrosine-protein kinase Mer)
L51S (p.Leu51Ser) in MERTK (Tyrosine-protein kinase Mer) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
L51S (p.Leu51Ser) variant details
- p.Leu51Ser
- gnomAD 2-111929210-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.243
- REVEL 0.15
- MetaLR 0.19
- MetaSVM -0.96
- CADD 4.26
- PolyPhen-2 0.00
- SIFT 0.58
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available