V136M (p.Val136Met) variant of ABCG2 (Q9UNQ0)
V136M (p.Val136Met) in ABCG2 (Q9UNQ0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
V136M (p.Val136Met) variant details
- p.Val136Met
- ExAC rs773393258
- gnomAD rs773393258
- Missense
- Variant Prioritization Score for Impact Estimate 0.589
- REVEL 0.46
- CADD 24.90
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available