M110K (p.Met110Lys) variant of ABCC9 (O60706)
M110K (p.Met110Lys) in ABCC9 (O60706) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
M110K (p.Met110Lys) variant details
- p.Met110Lys
- ExAC rs774731983
- gnomAD rs774731983
- Missense
- Variant Prioritization Score for Impact Estimate 0.76
- REVEL 0.89
- CADD 23.10
- PolyPhen-2 0.06
- SIFT 0.01
- Most common in the HGDP:KARITIANA population (allele frequency 0.35)
- Structural context available