S27N (p.Ser27Asn) variant of CALCRL (Q16602)
S27N (p.Ser27Asn) in CALCRL (Q16602) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.04 / 1. The record also includes population frequency data and structural context.
S27N (p.Ser27Asn) variant details
- p.Ser27Asn
- ExAC rs779483045
- gnomAD rs779483045
- Missense
- Variant Prioritization Score for Impact Estimate 0.0382
- REVEL 0.02
- CADD 0.24
- PolyPhen-2 0.00
- SIFT 0.57
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available