P18L (p.Pro18Leu) variant of TMEM127 (Transmembrane protein 127)
P18L (p.Pro18Leu) in TMEM127 (Transmembrane protein 127) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of Multiple mitochondrial dysfunctions syndrome 10; Hereditary pheochromocytoma and. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
P18L (p.Pro18Leu) variant details
- p.Pro18Leu
- rs377740271
- ClinGen CA1777405
- cosmic curated COSV99302
- ClinVar RCV000231126
- Benign/Likely benign
- Multiple mitochondrial dysfunctions syndrome 10; Hereditary pheochromocytoma and
- Missense
- Variant Prioritization Score for Impact Estimate 0.414
- REVEL 0.19
- CADD 23.00
- PolyPhen-2 0.01
- SIFT 0.25
- ClinVar: Benign/Likely benign (Multiple mitochondrial dysfunctions syndrome 10; Hereditary pheo)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:TUJIA population (allele frequency 0.05)
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)
- Cited in: Hereditary Paraganglioma-Pheochromocytoma Syndromes. (PMID 20301715)