M39V (p.Met39Val) variant of LYST (Lysosomal-trafficking regulator)
M39V (p.Met39Val) in LYST (Lysosomal-trafficking regulator) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
M39V (p.Met39Val) variant details
- p.Met39Val
- TOPMed rs1675815529
- Missense
- Variant Prioritization Score for Impact Estimate 0.339
- REVEL 0.23
- CADD 21.00
- PolyPhen-2 0.14
- SIFT 0.09
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available