T17P (p.Thr17Pro) variant of MAP2K2 (P36507)
T17P (p.Thr17Pro) in MAP2K2 (P36507) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
T17P (p.Thr17Pro) variant details
- p.Thr17Pro
- ExAC rs397517415
- gnomAD rs397517415
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.164
- REVEL 0.16
- CADD 15.30
- PolyPhen-2 0.01
- SIFT 0.07
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available