L36P (p.Leu36Pro) variant of ABCG8 (Q9H221)
L36P (p.Leu36Pro) in ABCG8 (Q9H221) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
L36P (p.Leu36Pro) variant details
- p.Leu36Pro
- gnomAD 2-43844550-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.705
- REVEL 0.78
- MetaLR 0.77
- MetaSVM 0.69
- CADD 26.30
- PolyPhen-2 1.00
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 8.1e-06)
- Structural context available
- Literature evidence available