A21T (p.Ala21Thr) variant of PKD1 (Polycystin-1)
A21T (p.Ala21Thr) in PKD1 (Polycystin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
A21T (p.Ala21Thr) variant details
- p.Ala21Thr
- gnomAD rs2092941556
- Missense
- Variant Prioritization Score for Impact Estimate 0.159
- REVEL 0.02
- MetaLR 0.04
- MetaSVM -1.04
- CADD 16.40
- PolyPhen-2 0.02
- SIFT 0.08
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available