P36L (p.Pro36Leu) variant of TMEM127 (Transmembrane protein 127)
P36L (p.Pro36Leu) in TMEM127 (Transmembrane protein 127) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes structural context.
P36L (p.Pro36Leu) variant details
- p.Pro36Leu
- rs2104308005
- ClinGen CA347656099
- ClinVar RCV003320962
- Ensembl rs2104308005
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.336
- AlphaMissense 0.71
- MetaLR 0.25
- MetaSVM -0.67
- PolyPhen-2 0.17
- SIFT 1.00
- EVE 0.05
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available