P2T (p.Pro2Thr) variant of SLC22A1 (O15245)
P2T (p.Pro2Thr) in SLC22A1 (O15245) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
P2T (p.Pro2Thr) variant details
- p.Pro2Thr
- gnomAD 6-160121939-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.194
- REVEL 0.13
- CADD 8.35
- PolyPhen-2 0.08
- SIFT 0.17
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available