M13I (p.Met13Ile) variant of MAPK1 (P28482)
M13I (p.Met13Ile) in MAPK1 (P28482) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, experimental measurements, and structural context.
M13I (p.Met13Ile) variant details
- p.Met13Ile
- NCI-TCGA TCGA novel
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.389
- REVEL 0.17
- CADD 22.60
- PolyPhen-2 0.00
- SIFT 0.35
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 4.7e-05)
- Structural context available
- MAPK1 VRT-11E: score 7.02