P14L (p.Pro14Leu) variant of CYP11B1 (P15538)
P14L (p.Pro14Leu) in CYP11B1 (P15538) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
P14L (p.Pro14Leu) variant details
- p.Pro14Leu
- gnomAD rs1304483373
- Missense
- Variant Prioritization Score for Impact Estimate 0.289
- REVEL 0.25
- CADD 22.20
- PolyPhen-2 0.72
- SIFT 0.04
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available