L41P (p.Leu41Pro) variant of RAMP1 (O60894)
L41P (p.Leu41Pro) in RAMP1 (O60894) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
L41P (p.Leu41Pro) variant details
- p.Leu41Pro
- rs2473724171
- ClinGen CA351220617
- ClinVar RCV004104903
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.526
- REVEL 0.46
- CADD 23.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available