D46E (p.Asp46Glu) variant of MERTK (Tyrosine-protein kinase Mer)
D46E (p.Asp46Glu) in MERTK (Tyrosine-protein kinase Mer) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Retinitis pigmentosa. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
D46E (p.Asp46Glu) variant details
- p.Asp46Glu
- rs527694612
- ClinGen CA1830985
- ClinVar RCV000305032
- ClinVar RCV001410430
- Conflicting interpretations
- not provided; Retinitis pigmentosa
- Missense
- Variant Prioritization Score for Impact Estimate 0.206
- REVEL 0.18
- MetaLR 0.22
- MetaSVM -0.78
- CADD 7.80
- PolyPhen-2 0.04
- SIFT 0.15
- ClinVar: Conflicting classifications of pathogenicity (not provided; Retinitis pigmentosa)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:BALOCHI population (allele frequency 0.043)
- Structural context available
- Cited in: Nonsyndromic Retinitis Pigmentosa Overview. (PMID 20301590)
- Cited in: Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies). (PMID 22234150)