M2I (p.Met2Ile) variant of PSTPIP1 (O43586)
M2I (p.Met2Ile) in PSTPIP1 (O43586) is a missense change. Clinical records from ClinVar, EBI, 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 0.35 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
M2I (p.Met2Ile) variant details
- p.Met2Ile
- rs770056297
- ClinGen CA7675642
- ClinVar RCV003362596
- ExAC rs770056297
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.354
- AlphaMissense 0.57
- MetaLR 0.13
- MetaSVM -0.91
- PolyPhen-2 0.22
- SIFT 0.07
- MutPred 0.48
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- PSTPIP1 SH3 domain domainome 1.0: score -0.106
- 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)