R18P (p.Arg18Pro) variant of MCM2 (P49736)
R18P (p.Arg18Pro) in MCM2 (P49736) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of Autosomal dominant nonsyndromic hearing loss 70; not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
R18P (p.Arg18Pro) variant details
- p.Arg18Pro
- rs185298481
- ClinGen CA2595462
- ClinVar RCV003236536
- ClinVar RCV003549026
- Benign/Likely benign
- Autosomal dominant nonsyndromic hearing loss 70; not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.198
- REVEL 0.12
- MetaLR 0.06
- MetaSVM -1.04
- CADD 18.30
- PolyPhen-2 0.01
- SIFT 0.20
- ClinVar: Benign/Likely benign (Autosomal dominant nonsyndromic hearing loss 70; not specified;)
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:JPT population (allele frequency 0.02)
- Structural context available