G9S (p.Gly9Ser) variant of LAMA3 (Laminin subunit alpha-3)
G9S (p.Gly9Ser) in LAMA3 (Laminin subunit alpha-3) is a missense change. 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.
G9S (p.Gly9Ser) variant details
- p.Gly9Ser
- gnomAD 18-23689708-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.152
- REVEL 0.03
- CADD 16.30
- PolyPhen-2 0.01
- SIFT 0.24
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available
- Literature evidence available