P7T (p.Pro7Thr) variant of ABCC6 (O95255)
P7T (p.Pro7Thr) in ABCC6 (O95255) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
P7T (p.Pro7Thr) variant details
- p.Pro7Thr
- gnomAD rs1472500361
- Missense
- Variant Prioritization Score for Impact Estimate 0.224
- REVEL 0.03
- CADD 9.18
- PolyPhen-2 0.04
- SIFT 0.15
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available