R44C (p.Arg44Cys) variant of MCM2 (P49736)
R44C (p.Arg44Cys) in MCM2 (P49736) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as no classifications from unflagged records in the context of Autosomal dominant nonsyndromic hearing loss 70. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
R44C (p.Arg44Cys) variant details
- p.Arg44Cys
- rs375851208
- ClinGen CA2595480
- ClinVar RCV000223937
- UniProt VAR 077049
- no classifications from unflagged records
- Autosomal dominant nonsyndromic hearing loss 70
- Missense
- Variant Prioritization Score for Impact Estimate 0.345
- REVEL 0.24
- MetaLR 0.12
- MetaSVM -0.89
- CADD 25.10
- PolyPhen-2 0.83
- SIFT 0.00
- ClinVar: no classifications from unflagged records (Autosomal dominant nonsyndromic hearing loss 70)
- EBI: Pathogenic (in DFNA70)
- UniProt: Pathogenic (in DFNA70)
- Most common in the East Asian population (allele frequency 0.0001)
- Structural context available
- Cited in: Whole Exome Sequencing Identified MCM2 as a Novel Causative Gene for Autosomal Dominant Nonsyndromic Deafness in a… (PMID 26196677)