E38K (p.Glu38Lys) variant of RAMP1 (O60894)
E38K (p.Glu38Lys) in RAMP1 (O60894) 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 0.24 / 1. The record also includes population frequency data and structural context.
E38K (p.Glu38Lys) variant details
- p.Glu38Lys
- NCI-TCGA Cosmic COSV5453
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.241
- REVEL 0.04
- CADD 8.81
- PolyPhen-2 0.04
- SIFT 0.09
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available