P21L (p.Pro21Leu) variant of AGXT (P21549)
P21L (p.Pro21Leu) in AGXT (P21549) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
P21L (p.Pro21Leu) variant details
- p.Pro21Leu
- gnomAD 2-240868927-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.632
- REVEL 0.58
- ESM-1b 1.00
- AlphaMissense 0.19
- CADD 23.20
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- AGXT complementation assay *1 B: score 1.01
- Literature evidence available