Q44K (p.Gln44Lys) variant of COQ8A (Q8NI60)
Q44K (p.Gln44Lys) in COQ8A (Q8NI60) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
Q44K (p.Gln44Lys) variant details
- p.Gln44Lys
- cosmic curated COSV10820
- Missense
- Variant Prioritization Score for Impact Estimate 0.444
- REVEL 0.29
- CADD 23.80
- PolyPhen-2 0.55
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available