K92N (p.Lys92Asn) variant of ABCG5 (Q9H222)
K92N (p.Lys92Asn) in ABCG5 (Q9H222) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
K92N (p.Lys92Asn) variant details
- p.Lys92Asn
- gnomAD rs1172899550
- Missense
- Variant Prioritization Score for Impact Estimate 0.456
- REVEL 0.62
- CADD 22.30
- PolyPhen-2 0.77
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 2.5e-05)
- Structural context available