M115L (p.Met115Leu) variant of ABCC6 (O95255)
M115L (p.Met115Leu) in ABCC6 (O95255) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
M115L (p.Met115Leu) variant details
- p.Met115Leu
- Ensembl rs2049014583
- Missense
- Variant Prioritization Score for Impact Estimate 0.285
- REVEL 0.20
- CADD 23.60
- PolyPhen-2 0.02
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 7.9e-06)
- Structural context available