P144L (p.Pro144Leu) variant of HTR2A (5-hydroxytryptamine receptor 2A)
P144L (p.Pro144Leu) 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 0.61 / 1. The record also includes population frequency data and structural context.
P144L (p.Pro144Leu) variant details
- p.Pro144Leu
- NCI-TCGA Cosmic COSV6632
- cosmic curated COSV66327
- Ensembl rs2138255797
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.605
- REVEL 0.55
- MetaLR 0.29
- MetaSVM -0.41
- CADD 30.00
- PolyPhen-2 0.99
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the HGDP:COLOMBIAN population (allele frequency 0.17)
- Structural context available