P26A (p.Pro26Ala) variant of CASQ2 (Calsequestrin-2)
P26A (p.Pro26Ala) in CASQ2 (Calsequestrin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
P26A (p.Pro26Ala) variant details
- p.Pro26Ala
- gnomAD rs1649205411
- Missense
- Variant Prioritization Score for Impact Estimate 0.724
- REVEL 0.72
- MetaLR 0.67
- MetaSVM 0.19
- CADD 27.60
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available