P42P (p.Pro42Pro) variant of SLC6A1 (P30531)
P42P (p.Pro42Pro) in SLC6A1 (P30531) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
P42P (p.Pro42Pro) variant details
- p.Pro42Pro
- rs142759144
- gnomAD 3-11017337-C-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0779
- CADD 0.12
- Most common in the South Asian population (allele frequency 5.8e-05)
- Structural context available
- Literature evidence available