P122L (p.Pro122Leu) variant of ANKRD1 (Q15327)
P122L (p.Pro122Leu) in ANKRD1 (Q15327) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
P122L (p.Pro122Leu) variant details
- p.Pro122Leu
- ExAC rs746696408
- gnomAD rs746696408
- Missense
- Variant Prioritization Score for Impact Estimate 0.353
- REVEL 0.15
- CADD 23.00
- PolyPhen-2 0.10
- SIFT 0.18
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available