M424T (p.Met424Thr) variant of RPGR (Q92834)
M424T (p.Met424Thr) in RPGR (Q92834) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
M424T (p.Met424Thr) variant details
- p.Met424Thr
- cosmic curated COSV58840
- ExAC rs770963251
- gnomAD rs770963251
- Missense
- Variant Prioritization Score for Impact Estimate 0.173
- CADD 14.20
- PolyPhen-2 0.60
- SIFT 0.04
- Most common in the South Asian population (allele frequency 7.4e-05)
- Structural context available