M6L (p.Met6Leu) variant of CYP2A6 (Cytochrome P450 2A6)
M6L (p.Met6Leu) in CYP2A6 (Cytochrome P450 2A6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data and structural context.
M6L (p.Met6Leu) variant details
- p.Met6Leu
- rs72549432
- ClinGen CA9453315
- ClinVar RCV000898342
- 1000Genomes rs72549432
- Benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.1
- REVEL 0.10
- CADD 0.01
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Benign (not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:SAN population (allele frequency 0.17)
- Structural context available