T8T (p.Thr8Thr) variant of PCCA (P05165)
T8T (p.Thr8Thr) in PCCA (P05165) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
T8T (p.Thr8Thr) variant details
- p.Thr8Thr
- rs117397004
- gnomAD 13-100089144-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0915
- CADD 1.53
- Most common in the HGDP:JAPANESE population (allele frequency 0.071)
- Structural context available
- Cited in: Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American… (PMID 25741868)