A768T (p.Ala768Thr) variant of MERTK (Tyrosine-protein kinase Mer)
A768T (p.Ala768Thr) in MERTK (Tyrosine-protein kinase Mer) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Retinitis pigmentosa. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
A768T (p.Ala768Thr) variant details
- p.Ala768Thr
- rs878853353
- ClinGen CA10581655
- NCI-TCGA Cosmic COSV5493
- cosmic curated COSV54936
- Pathogenic/Likely pathogenic
- not provided; Retinitis pigmentosa
- Missense
- Variant Prioritization Score for Impact Estimate 0.796
- REVEL 0.84
- MetaLR 0.75
- MetaSVM 0.72
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Retinitis pigmentosa)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00031)
- Structural context available
- Cited in: Nonsyndromic Retinitis Pigmentosa Overview. (PMID 20301590)
- Cited in: Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies). (PMID 22234150)