M42L (p.Met42Leu) variant of ABCC6 (O95255)
M42L (p.Met42Leu) in ABCC6 (O95255) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.04 / 1. The record also includes population frequency data and structural context.
M42L (p.Met42Leu) variant details
- p.Met42Leu
- Ensembl rs1555523458
- Missense
- Variant Prioritization Score for Impact Estimate 0.045
- REVEL 0.02
- CADD 1.38
- PolyPhen-2 0.00
- SIFT 0.54
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available