A6V (p.Ala6Val) variant of OPRM1 (Mu-type opioid receptor)
A6V (p.Ala6Val) in OPRM1 (Mu-type opioid receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.05 / 1. The record also includes population frequency data, published literature, and structural context.
A6V (p.Ala6Val) variant details
- p.Ala6Val
- rs1799972
- cosmic curated COSV57676
- UniProt VAR 009525
- 1000Genomes rs1799972
- Missense
- Variant Prioritization Score for Impact Estimate 0.0539
- REVEL 0.05
- CADD 0.05
- PolyPhen-2 0.00
- SIFT 0.55
- Most common in the HGDP:BIAKA population (allele frequency 0.5)
- Structural context available
- Cited in: Mu opioid receptor gene variants: lack of association with alcohol dependence. (PMID 9399694)
- Cited in: Single-nucleotide polymorphism in the human mu opioid receptor gene alters beta-endorphin binding and activity… (PMID 9689128)