L18S (p.Leu18Ser) variant of SPTA1 (P02549)
L18S (p.Leu18Ser) in SPTA1 (P02549) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data.
L18S (p.Leu18Ser) variant details
- p.Leu18Ser
- ExAC rs777146280
- TOPMed rs777146280
- gnomAD rs777146280
- Missense
- Variant Prioritization Score for Impact Estimate 0.661
- CADD 28.50
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 4.8e-05)