L31W (p.Leu31Trp) variant of PINK1 (Q9BXM7)
L31W (p.Leu31Trp) in PINK1 (Q9BXM7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
L31W (p.Leu31Trp) variant details
- p.Leu31Trp
- gnomAD 1-20633640-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.231
- REVEL 0.14
- CADD 15.80
- PolyPhen-2 0.00
- SIFT 0.58
- Population evidence available
- Structural context available
- Literature evidence available