M71V (p.Met71Val) variant of ABCG2 (Q9UNQ0)
M71V (p.Met71Val) in ABCG2 (Q9UNQ0) is a missense change. Clinical records from ClinVar and UniProt describe it as likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
M71V (p.Met71Val) variant details
- p.Met71Val
- 1000Genomes rs148475733
- ESP rs148475733
- ExAC rs148475733
- TOPMed rs148475733
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.61
- REVEL 0.60
- CADD 24.80
- PolyPhen-2 0.84
- SIFT 0.00
- ClinVar: Likely benign (not provided)
- UniProt: Likely benign
- Most common in the HGDP:BALOCHI population (allele frequency 0.022)
- Structural context available