L129P (p.Leu129Pro) variant of LYST (Lysosomal-trafficking regulator)
L129P (p.Leu129Pro) in LYST (Lysosomal-trafficking regulator) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
L129P (p.Leu129Pro) variant details
- p.Leu129Pro
- TOPMed rs1673341287
- Missense
- Variant Prioritization Score for Impact Estimate 0.137
- REVEL 0.04
- CADD 11.90
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available