P33A (p.Pro33Ala) variant of MERTK (Tyrosine-protein kinase Mer)
P33A (p.Pro33Ala) in MERTK (Tyrosine-protein kinase Mer) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
P33A (p.Pro33Ala) variant details
- p.Pro33Ala
- gnomAD 2-111929155-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.179
- REVEL 0.06
- MetaLR 0.16
- MetaSVM -0.99
- CADD 4.65
- PolyPhen-2 0.00
- SIFT 0.15
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available