S2F (p.Ser2Phe) variant of ABCG2 (Q9UNQ0)
S2F (p.Ser2Phe) in ABCG2 (Q9UNQ0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
S2F (p.Ser2Phe) variant details
- p.Ser2Phe
- cosmic curated COSV52949
- gnomAD rs1212086865
- Missense
- Variant Prioritization Score for Impact Estimate 0.477
- REVEL 0.36
- CADD 24.40
- PolyPhen-2 0.74
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available