L12I (p.Leu12Ile) variant of MAP2K2 (P36507)
L12I (p.Leu12Ile) in MAP2K2 (P36507) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of RASopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
L12I (p.Leu12Ile) variant details
- p.Leu12Ile
- rs2041335933
- ClinGen CA403396031
- ClinVar RCV001307458
- Ensembl rs2041335933
- Uncertain significance
- RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.396
- REVEL 0.19
- CADD 23.10
- PolyPhen-2 0.00
- SIFT 0.21
- ClinVar: Uncertain significance (RASopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available