C60F (p.Cys60Phe) variant of HTR2A (5-hydroxytryptamine receptor 2A)
C60F (p.Cys60Phe) in HTR2A (5-hydroxytryptamine receptor 2A) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
C60F (p.Cys60Phe) variant details
- p.Cys60Phe
- rs763386955
- ExAC rs763386955
- gnomAD rs763386955
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.226
- REVEL 0.06
- MetaLR 0.04
- MetaSVM -1.05
- CADD 17.80
- PolyPhen-2 0.00
- SIFT 0.70
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available