M55V (p.Met55Val) variant of SLC6A1 (P30531)
M55V (p.Met55Val) in SLC6A1 (P30531) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
M55V (p.Met55Val) variant details
- p.Met55Val
- cosmic curated COSV55113
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.492
- REVEL 0.43
- CADD 22.80
- PolyPhen-2 0.04
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available