R60Q (p.Arg60Gln) variant of ABCC6 (O95255)
R60Q (p.Arg60Gln) in ABCC6 (O95255) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
R60Q (p.Arg60Gln) variant details
- p.Arg60Gln
- rs183648123
- ClinGen CA7926695
- ClinVar RCV000585541
- ClinVar RCV001700226
- Conflicting interpretations
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.19
- REVEL 0.03
- CADD 16.70
- PolyPhen-2 0.00
- SIFT 0.17
- ClinVar: Conflicting classifications of pathogenicity (not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:RUSSIAN population (allele frequency 0.02)
- Structural context available