P75L (p.Pro75Leu) variant of MECP2 (Methyl-CpG-binding protein 2)
P75L (p.Pro75Leu) in MECP2 (Methyl-CpG-binding protein 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of Rett syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
P75L (p.Pro75Leu) variant details
- p.Pro75Leu
- rs267608440
- ClinGen CA170272
- ClinVar RCV000133035
- ClinVar RCV000195208
- Benign
- Rett syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.667
- AlphaMissense 0.24
- MetaLR 0.89
- MetaSVM 1.01
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.26
- ClinVar: Benign (Rett syndrome)
- EBI: Benign
- UniProt: Benign
- Population evidence available
- Structural context available
- 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)