P25Q (p.Pro25Gln) variant of LAMA2 (Laminin subunit alpha-2)
P25Q (p.Pro25Gln) in LAMA2 (Laminin subunit alpha-2) is a missense change. Clinical records from EBI and UniProt describe it as benign. The record also includes variant effect predictions and population frequency data.
P25Q (p.Pro25Gln) variant details
- p.Pro25Gln
- 1000Genomes rs145310035
- ESP rs145310035
- ExAC rs145310035
- TOPMed rs145310035
- Benign
- Missense
- REVEL 0.03
- CADD 6.19
- PolyPhen-2 0.00
- SIFT 0.52
- EBI: Benign
- UniProt: Benign
- Most common in the African/African-American population (allele frequency 2.4e-05)