P14S (p.Pro14Ser) variant of LAMA3 (Laminin subunit alpha-3)
P14S (p.Pro14Ser) in LAMA3 (Laminin subunit alpha-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
P14S (p.Pro14Ser) variant details
- p.Pro14Ser
- gnomAD 18-23689723-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.13
- REVEL 0.01
- CADD 4.39
- PolyPhen-2 0.00
- SIFT 0.80
- Population evidence available
- Structural context available
- Literature evidence available