V27A (p.Val27Ala) variant of LAMC2 (Laminin subunit gamma-2)
V27A (p.Val27Ala) in LAMC2 (Laminin subunit gamma-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Junctional epidermolysis bullosa. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
V27A (p.Val27Ala) variant details
- p.Val27Ala
- rs772538256
- ClinGen CA1282238
- ClinVar RCV001096860
- ExAC rs772538256
- Uncertain significance
- Junctional epidermolysis bullosa
- Missense
- Variant Prioritization Score for Impact Estimate 0.153
- REVEL 0.04
- CADD 9.00
- PolyPhen-2 0.00
- SIFT 0.66
- ClinVar: Uncertain significance (Junctional epidermolysis bullosa)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Cited in: Junctional Epidermolysis Bullosa. (PMID 20301304)
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)