M71K (p.Met71Lys) variant of ABCG2 (Q9UNQ0)
M71K (p.Met71Lys) in ABCG2 (Q9UNQ0) 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.
M71K (p.Met71Lys) variant details
- p.Met71Lys
- gnomAD rs1321490321
- Missense
- Variant Prioritization Score for Impact Estimate 0.764
- REVEL 0.86
- CADD 26.30
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available