H24L (p.His24Leu) variant of CALCA (P06881)
H24L (p.His24Leu) 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 and published literature.
H24L (p.His24Leu) variant details
- p.His24Leu
- gnomAD 11-14971122-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.206
- REVEL 0.10
- CADD 22.30
- PolyPhen-2 0.00
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Literature evidence available