S60P (p.Ser60Pro) variant of LYST (Lysosomal-trafficking regulator)
S60P (p.Ser60Pro) in LYST (Lysosomal-trafficking regulator) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
S60P (p.Ser60Pro) variant details
- p.Ser60Pro
- Ensembl rs1675802846
- Missense
- Variant Prioritization Score for Impact Estimate 0.295
- REVEL 0.20
- CADD 24.30
- PolyPhen-2 0.56
- SIFT 0.01
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available