M53V (p.Met53Val) variant of CALCRL (Q16602)
M53V (p.Met53Val) in CALCRL (Q16602) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
M53V (p.Met53Val) variant details
- p.Met53Val
- gnomAD rs1199662856
- Missense
- Variant Prioritization Score for Impact Estimate 0.258
- REVEL 0.10
- CADD 19.20
- PolyPhen-2 0.01
- SIFT 0.36
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available