A740V (p.Ala740Val) variant of MERTK (Tyrosine-protein kinase Mer)
A740V (p.Ala740Val) in MERTK (Tyrosine-protein kinase Mer) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Autosomal recessive retinitis pigmentosa. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and structural context.
A740V (p.Ala740Val) variant details
- p.Ala740Val
- rs911057284
- ClinGen CA53591400
- cosmic curated COSV99775
- ClinVar RCV001257904
- Pathogenic
- Autosomal recessive retinitis pigmentosa
- Missense
- Variant Prioritization Score for Impact Estimate 0.808
- REVEL 0.80
- MetaLR 0.81
- MetaSVM 0.79
- CADD 27.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Autosomal recessive retinitis pigmentosa)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available