P14T (p.Pro14Thr) variant of LAMA3 (Laminin subunit alpha-3)
P14T (p.Pro14Thr) in LAMA3 (Laminin subunit alpha-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
P14T (p.Pro14Thr) variant details
- p.Pro14Thr
- gnomAD 18-23689723-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.125
- REVEL 0.01
- CADD 2.63
- PolyPhen-2 0.02
- SIFT 0.70
- Population evidence available
- Structural context available
- Literature evidence available