T4A (p.Thr4Ala) variant of CHM (P24386)
T4A (p.Thr4Ala) in CHM (P24386) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
T4A (p.Thr4Ala) variant details
- p.Thr4Ala
- rs746300399
- ClinGen CA10465692
- cosmic curated COSV62565
- ClinVar RCV001277508
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.152
- REVEL 0.07
- MetaLR 0.10
- MetaSVM -1.04
- CADD 17.20
- PolyPhen-2 0.00
- SIFT 0.17
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 0.00038)
- Structural context available
- Cited in: Choroideremia. (PMID 20301511)