A4V (p.Ala4Val) variant of MERTK (Tyrosine-protein kinase Mer)
A4V (p.Ala4Val) in MERTK (Tyrosine-protein kinase Mer) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
A4V (p.Ala4Val) variant details
- p.Ala4Val
- Ensembl rs1297079705
- Missense
- Variant Prioritization Score for Impact Estimate 0.208
- REVEL 0.11
- MetaLR 0.18
- MetaSVM -0.94
- CADD 16.60
- PolyPhen-2 0.00
- SIFT 0.88
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available