V20A (p.Val20Ala) variant of LAMA2 (Laminin subunit alpha-2)
V20A (p.Val20Ala) 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; not provided. The record also includes variant effect predictions, population frequency data, and published literature.
V20A (p.Val20Ala) variant details
- p.Val20Ala
- rs746372774
- ClinGen CA3992200
- ClinVar RCV001317544
- ClinVar RCV003132406
- Uncertain significance
- Inborn genetic diseases; LAMA2-related muscular dystrophy; not provided
- Missense
- REVEL 0.00
- CADD 5.67
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (Inborn genetic diseases; LAMA2-related muscular dystrophy; not p)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-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)