P43L (p.Pro43Leu) variant of SLC25A20 (O43772)
P43L (p.Pro43Leu) in SLC25A20 (O43772) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
P43L (p.Pro43Leu) variant details
- p.Pro43Leu
- cosmic curated COSV59802
- ExAC rs758258325
- gnomAD rs758258325
- Missense
- Variant Prioritization Score for Impact Estimate 0.284
- REVEL 0.17
- MetaLR 0.18
- MetaSVM -0.96
- CADD 21.30
- PolyPhen-2 0.00
- SIFT 0.30
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available