P99A (p.Pro99Ala) variant of LYST (Lysosomal-trafficking regulator)
P99A (p.Pro99Ala) in LYST (Lysosomal-trafficking regulator) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
P99A (p.Pro99Ala) variant details
- p.Pro99Ala
- ESP rs375315039
- TOPMed rs375315039
- gnomAD rs375315039
- Missense
- Variant Prioritization Score for Impact Estimate 0.497
- REVEL 0.37
- CADD 24.00
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available