P42L (p.Pro42Leu) variant of SLC6A1 (P30531)
P42L (p.Pro42Leu) in SLC6A1 (P30531) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes structural context.
P42L (p.Pro42Leu) variant details
- p.Pro42Leu
- rs867819157
- NCI-TCGA Cosmic COSV5511
- cosmic curated COSV55116
- Ensembl rs867819157
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.351
- AlphaMissense 0.57
- MetaLR 0.20
- MetaSVM -0.76
- PolyPhen-2 0.09
- SIFT 0.08
- EVE 0.24
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available