R135T (p.Arg135Thr) variant of MAPK1 (P28482)
R135T (p.Arg135Thr) in MAPK1 (P28482) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes experimental measurements, published literature, and structural context.
R135T (p.Arg135Thr) variant details
- p.Arg135Thr
- rs797044892
- ClinGen CA204703
- ClinVar RCV000190714
- ClinVar RCV003321539
- Likely pathogenic
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.507
- AlphaMissense 0.99
- MetaLR 0.37
- MetaSVM -0.24
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.92
- ClinVar: Likely pathogenic (not provided; Inborn genetic diseases)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- MAPK1 DOX: score 7.57
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)