A53S (p.Ala53Ser) variant of CALCA (P06881)
A53S (p.Ala53Ser) in CALCA (P06881) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data.
A53S (p.Ala53Ser) variant details
- p.Ala53Ser
- gnomAD rs1555026128
- Missense
- Variant Prioritization Score for Impact Estimate 0.206
- REVEL 0.16
- CADD 13.70
- PolyPhen-2 0.01
- SIFT 0.06
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)