P25L (p.Pro25Leu) variant of LAMA2 (Laminin subunit alpha-2)
P25L (p.Pro25Leu) in LAMA2 (Laminin subunit alpha-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; LAMA2-related muscular dystrophy; Congenital muscular d. The record also includes variant effect predictions, population frequency data, and published literature.
P25L (p.Pro25Leu) variant details
- p.Pro25Leu
- rs145310035
- ClinGen CA3992202
- ClinVar RCV000514861
- ClinVar RCV001083278
- Conflicting interpretations
- Inborn genetic diseases; LAMA2-related muscular dystrophy; Congenital muscular d
- Missense
- REVEL 0.03
- CADD 9.22
- PolyPhen-2 0.00
- SIFT 0.25
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; LAMA2-related muscular dystrophy; Conge)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:MOZABITE population (allele frequency 0.04)
- 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)