L12V (p.Leu12Val) variant of MERTK (Tyrosine-protein kinase Mer)
L12V (p.Leu12Val) in MERTK (Tyrosine-protein kinase Mer) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
L12V (p.Leu12Val) variant details
- p.Leu12Val
- gnomAD 2-111898769-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.189
- REVEL 0.11
- MetaLR 0.18
- MetaSVM -1.00
- CADD 7.92
- PolyPhen-2 0.00
- SIFT 0.46
- Population evidence available
- Structural context available
- Literature evidence available