L63F (p.Leu63Phe) variant of GNAT1 (P11488)
L63F (p.Leu63Phe) in GNAT1 (P11488) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
L63F (p.Leu63Phe) variant details
- p.Leu63Phe
- gnomAD 3-50193302-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.626
- REVEL 0.55
- CADD 23.30
- PolyPhen-2 0.19
- SIFT 0.05
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available
- Literature evidence available