V38L (p.Val38Leu) variant of MAPK3 (P27361)
V38L (p.Val38Leu) in MAPK3 (P27361) 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 0.24 / 1. The record also includes population frequency data and structural context.
V38L (p.Val38Leu) variant details
- p.Val38Leu
- rs1394035337
- ClinGen CA395491483
- ClinVar RCV004183027
- TOPMed rs1394035337
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.243
- REVEL 0.07
- CADD 22.20
- PolyPhen-2 0.01
- SIFT 0.07
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available