M1T (p.Met1Thr) variant of RP2 (Protein XRP2)
M1T (p.Met1Thr) in RP2 (Protein XRP2) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes published literature and structural context.
M1T (p.Met1Thr) variant details
- p.Met1Thr
- rs797044561
- ClinGen CA236346
- ClinVar RCV000171435
- ClinVar RCV001003180
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.862
- MetaLR 0.84
- MetaSVM 0.76
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.97
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Nonsyndromic Retinitis Pigmentosa Overview. (PMID 20301590)
- Cited in: Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies). (PMID 22234150)