P2R (p.Pro2Arg) variant of LAMA2 (Laminin subunit alpha-2)
P2R (p.Pro2Arg) in LAMA2 (Laminin subunit alpha-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; LAMA2-related muscular dystrophy. The record also includes variant effect predictions, population frequency data, and published literature.
P2R (p.Pro2Arg) variant details
- p.Pro2Arg
- rs1247617026
- ClinGen CA365828168
- ClinVar RCV001295366
- ClinVar RCV005652591
- Uncertain significance
- Inborn genetic diseases; LAMA2-related muscular dystrophy
- Missense
- REVEL 0.11
- CADD 23.70
- PolyPhen-2 0.42
- SIFT 0.01
- ClinVar: Uncertain significance (Inborn genetic diseases; LAMA2-related muscular dystrophy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 8.3e-05)
- 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)