L44I (p.Leu44Ile) variant of DRD2 (D(2) dopamine receptor)
L44I (p.Leu44Ile) in DRD2 (D(2) dopamine receptor) 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.
L44I (p.Leu44Ile) variant details
- p.Leu44Ile
- cosmic curated COSV60763
- Missense
- Variant Prioritization Score for Impact Estimate 0.485
- REVEL 0.35
- MetaLR 0.17
- MetaSVM -0.84
- CADD 25.20
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available