P11L (p.Pro11Leu) variant of MAPK1 (P28482)
P11L (p.Pro11Leu) in MAPK1 (P28482) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. 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.
P11L (p.Pro11Leu) variant details
- p.Pro11Leu
- TOPMed rs1165567498
- gnomAD rs1165567498
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.391
- REVEL 0.18
- CADD 23.20
- PolyPhen-2 0.00
- SIFT 0.09
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- MAPK1 SCH772984: score 6.56