L7F (p.Leu7Phe) variant of ABCG5 (Q9H222)
L7F (p.Leu7Phe) in ABCG5 (Q9H222) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
L7F (p.Leu7Phe) variant details
- p.Leu7Phe
- cosmic curated COSV10807
- Missense
- Variant Prioritization Score for Impact Estimate 0.25
- CADD 4.97
- PolyPhen-2 0.09
- SIFT 0.39
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available