T17A (p.Thr17Ala) variant of MAP2K2 (P36507)
T17A (p.Thr17Ala) in MAP2K2 (P36507) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
T17A (p.Thr17Ala) variant details
- p.Thr17Ala
- rs397517415
- ClinGen CA137949
- ClinVar RCV000039486
- ClinVar RCV001564919
- Conflicting interpretations
- not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.139
- REVEL 0.13
- CADD 11.10
- PolyPhen-2 0.00
- SIFT 0.44
- ClinVar: Conflicting classifications of pathogenicity (not specified; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 3.3e-05)
- Structural context available