S185T (p.Ser185Thr) variant of PICALM (Q13492)
S185T (p.Ser185Thr) in PICALM (Q13492) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
S185T (p.Ser185Thr) variant details
- p.Ser185Thr
- rs2093660988
- gnomAD 11-85960760-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.463
- CADD 20.50
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available